| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Spastic Paraplegia 72B, Autosomal Recessive |
|
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait |
OMIM:620606 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia |
OMIM:212890 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... |
ORPHA:98765 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Somatic sensory dysfunction, Paresthesia, Stroke, Cerebral... |
ORPHA:324703 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Spasticity, Rigidity, Hypertonia, Ataxia |
ORPHA:2672 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Spastic Paraplegia 72A, Autosomal Dominant |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... |
OMIM:615625 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... |
ORPHA:101108 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Paresthesia, Cerebral ischemia, Str... |
ORPHA:36382 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Slurred speech, Intention tremor, Episodic ataxia |
OMIM:616055 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:612653 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... |
OMIM:300751 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Autosomal Spastic Paraplegia Type 30 |
|
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... |
ORPHA:101010 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Dysphagia, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor |
ORPHA:94122 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Gait ataxia, Ataxia |
OMIM:616410 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Babinski sign, Dysmetria, Ataxia |
OMIM:617584 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... |
OMIM:235700 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:182900 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Death in childhood, Schistocytosis, Anisopoikilocytosis, Anemia |
OMIM:616457 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... |
OMIM:613908 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Paresthesia, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recu... |
OMIM:605714 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... |
OMIM:616948 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... |
OMIM:601775 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... |
ORPHA:423275 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Mantle Cell Lymphoma |
|
Weight loss, Anorexia |
ORPHA:52416 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Spinocerebellar Ataxia 11 |
|
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia |
OMIM:604432 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec... |
OMIM:266200 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis |
OMIM:611490 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Harderoporphyria |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:618892 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Dysphag... |
ORPHA:136 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity |
ORPHA:228169 |
| Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Failure to thrive, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Var... |
OMIM:263400 |
| Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration |
|
Acanthocytosis |
OMIM:607236 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Anemia, Death in infancy, Anisopoikilocytosis |
OMIM:615789 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... |
ORPHA:288 |
| Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Sneddon Syndrome |
|
Ischemic stroke, Stroke, Impaired distal tactile sensation, Cerebral hemorrhage, Hypertension |
OMIM:182410 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Anorexia |
ORPHA:2023 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia |
ORPHA:67047 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Pallor, Splenomegaly |
ORPHA:75563 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b... |
OMIM:194380 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
| Dural Sinus Malformation |
|
Ataxia, Abnormal facial vein morphology, Somatic sensory dysfunction, Subdural hemorrhage, Stroke... |
ORPHA:97339 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage, Ataxia |
ORPHA:542310 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Addictive alcohol use, Cerebral hemorrh... |
ORPHA:31825 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis |
OMIM:232800 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... |
ORPHA:284324 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... |
ORPHA:822 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
| Isaacs Syndrome |
|
Weight loss, Distal sensory impairment |
ORPHA:84142 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
| Beta-Thalassemia |
|
Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p... |
OMIM:617633 |
| Huntington Disease-Like 2 |
|
Chorea, Weight loss |
ORPHA:98934 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... |
ORPHA:280679 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Oral-pharyngeal dysphagia, Anorexia |
ORPHA:100083 |
| Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait |
ORPHA:284271 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:274150 |
| Spinocerebellar Ataxia 44 |
|
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis |
OMIM:617691 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Cachexia, Ataxia, Dysphagia |
OMIM:618093 |
| Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Lathosterolosis |
|
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis |
ORPHA:46059 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Dysphagia |
ORPHA:2198 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... |
ORPHA:90065 |
| Spinocerebellar Ataxia 4 |
|
Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia |
OMIM:600223 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... |
OMIM:254450 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Evans Syndrome |
|
Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:1959 |
| Lathosterolosis |
|
Anisopoikilocytosis |
OMIM:607330 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Chorea, Hypertension, Arterial stenosis |
ORPHA:820 |
| Juvenile Huntington Disease |
|
Chorea, Gait ataxia, Weight loss, Hyperactivity, Ataxia, Progressive cerebellar ataxia |
ORPHA:248111 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... |
ORPHA:853 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Compu... |
ORPHA:401986 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
| Leishmaniasis |
|
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Throm... |
ORPHA:507 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Neuromuscular dy... |
ORPHA:449285 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Death in childho... |
OMIM:618278 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Death in adolescence, Thrombocytopenia, Stillbirth |
OMIM:619751 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume |
OMIM:153670 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Pleural Mesothelioma |
|
Obstruction of the superior vena cava, Abnormal cardiovascular system physiology, Weight loss, Dy... |
ORPHA:50251 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo... |
ORPHA:98772 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... |
OMIM:300845 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:30925 |
| Liposarcoma |
|
Paresthesia, Weight loss, Varicose veins |
ORPHA:69078 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Anorexia |
ORPHA:86893 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Pallor |
OMIM:613561 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... |
OMIM:177850 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Stroke, Ataxia, Intracranial hemorrhage |
ORPHA:140989 |
| Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... |
OMIM:609270 |
| Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Failure to thrive, Anorexia |
ORPHA:178029 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Chorea, Disinhibition, Polyphagia, Addictiv... |
ORPHA:399 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... |
OMIM:600462 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Splenomegaly, Pallor |
ORPHA:56425 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
| Abcd Syndrome |
|
Polycythemia, Neonatal death |
OMIM:600501 |
| Alexander Disease Type I |
|
Cachexia, Dysphagia, Failure to thrive, Ataxia |
ORPHA:363717 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Huntington Disease-Like 2 |
|
Chorea, Weight loss |
OMIM:606438 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... |
OMIM:187300 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... |
ORPHA:101 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia |
OMIM:246400 |
| Fetal Parvovirus Syndrome |
|
Anemia, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:295 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... |
OMIM:600376 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi... |
ORPHA:3287 |
| Graves Disease |
|
Polyphagia, Weight loss, Hyperactivity, Congestive heart failure |
OMIM:275000 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycardia |
OMIM:617397 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia |
ORPHA:90038 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Weight loss, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... |
OMIM:620300 |
| Beta-Thalassemia Intermedia |
|
Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... |
ORPHA:231222 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:403 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c |
OMIM:618858 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive |
OMIM:616430 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... |
ORPHA:101096 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Chylomicron Retention Disease |
|
Acanthocytosis |
ORPHA:71 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Motor stereotypy, Cachexia, Truncal ataxia, Dysphagia |
ORPHA:85278 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... |
ORPHA:90068 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Polydipsia, Pulmonary arterial hypertension, Int... |
ORPHA:369929 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage, Small for gestational age |
OMIM:615368 |
| Classic Hodgkin Lymphoma |
|
Anorexia, Weight loss, Ataxia |
ORPHA:391 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Weight loss |
ORPHA:1164 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Death in infancy, Neonatal death |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Death in infancy, Neonatal death |
OMIM:618839 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Polydipsia, Prolonged QT interval, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
| Riboflavin Transporter Deficiency |
|
Aggressive behavior, Cachexia, Dysphagia, Ataxia, Hypertension |
ORPHA:97229 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage, Small for gestational age, Failure to th... |
OMIM:619055 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Mcleod Syndrome |
|
Acanthocytosis, Splenomegaly |
OMIM:300842 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Failure to thrive |
ORPHA:79284 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Hellp Syndrome |
|
Hypotension, Increased body weight, Internal hemorrhage, Prolonged prothrombin time, Cerebral hem... |
ORPHA:244242 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Dysphagia, Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Acute Promyelocytic Leukemia |
|
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... |
ORPHA:520 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A... |
ORPHA:86839 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Skin ulcer, Hepa... |
ORPHA:231226 |
| Oculopharyngodistal Myopathy |
|
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia |
ORPHA:98897 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
| Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... |
ORPHA:624 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage |
ORPHA:49566 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Death in infancy, Poikilocytosis |
OMIM:618947 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... |
ORPHA:98849 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Tricuspid regurgitation, Retinal arterial tortuosity, Decreased body weight, Vitreous hemorrhage,... |
OMIM:620371 |
| Huntington Disease-Like 1 |
|
Chorea, Gait ataxia, Dysmetria, Weight loss, Restlessness |
ORPHA:157941 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitations, Facial t... |
ORPHA:100080 |
| Autoerythrocyte Sensitization Syndrome |
|
Self-injurious behavior, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracr... |
ORPHA:324636 |
| Riddle Syndrome |
|
Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage, Weight loss, Ataxia |
ORPHA:420741 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... |
ORPHA:91387 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Intrau... |
OMIM:601186 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Self-mutilation, Cachexia, Hyperactivity, Ataxia, Athetosis |
ORPHA:52503 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Dysphagia |
ORPHA:97286 |
| Familial Thrombocytosis |
|
Abnormal bleeding, Transient ischemic attack, Paresthesia, Cerebral ischemia, Syncope, Weight los... |
ORPHA:71493 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia |
OMIM:275350 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Congestive heart failure, Arrhythmia |
ORPHA:157973 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Failure to thrive, Anorexia |
OMIM:241500 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Ankyloglossia, Short stature, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Weight loss, Syncope, Vascular dilatation, Bradycardia, Jaw claudicati... |
ORPHA:221098 |
| Fatal Familial Insomnia |
|
Weight loss, Dysphagia, Ataxia |
OMIM:600072 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss, Orthostatic hypotension |
OMIM:605543 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Purpura |
ORPHA:3204 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Anorexia, Palpitat... |
ORPHA:100082 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Paresthesia, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Weight loss |
ORPHA:103910 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... |
ORPHA:330001 |
| Abetalipoproteinemia |
|
Anemia, Acanthocytosis, Reticulocytosis |
ORPHA:14 |
| Holocarboxylase Synthetase Deficiency |
|
Anorexia, Weight loss, Ataxia |
ORPHA:79242 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... |
ORPHA:447 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Weight loss, Palpitations |
OMIM:188580 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... |
ORPHA:99901 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss, Menorrhagia |
ORPHA:168816 |
| Polycythemia Vera |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib... |
ORPHA:729 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Acanthocytosis |
ORPHA:96180 |
| Reticular Dysgenesis |
|
Weight loss, Failure to thrive |
ORPHA:33355 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Gerstmann-Straussler Disease |
|
Limb ataxia, Gait ataxia, Aggressive behavior, Weight loss, Truncal ataxia |
OMIM:137440 |
| Rhabdoid Tumor |
|
Weight loss, Hypertension, Internal hemorrhage |
ORPHA:69077 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis |
ORPHA:168577 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology, Weight loss |
ORPHA:99868 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Failure to thrive, Cardiomyopathy |
OMIM:606054 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ... |
ORPHA:3208 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
| Rett Syndrome |
|
Abnormal T-wave, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Truncal ataxia, Pro... |
OMIM:312750 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage |
OMIM:608836 |
| Flynn-Aird Syndrome |
|
Cachexia, Atherosclerosis, Impaired pain sensation, Ataxia |
ORPHA:2047 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Sideroblastic anemia, Pancytopenia, Pallor, Refractory sideroblastic anemia, Reticulocy... |
OMIM:557000 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Anorexia |
ORPHA:65682 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
| Mirage Syndrome |
|
Lymphopenia, Intrauterine growth retardation, Decreased testicular size, Leukopenia, Cryptorchidi... |
OMIM:617053 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Weight loss, Raynaud phenomenon, Hypertension, Pericarditis |
ORPHA:767 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Spherocytosis, Splenomegaly |
ORPHA:251066 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, We... |
ORPHA:449400 |
| Wilson Disease |
|
Failure to thrive, Bruising susceptibility, Increased body weight, Aggressive behavior, Weight lo... |
ORPHA:905 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Petechiae, Purpura, Splenomegaly |
OMIM:620296 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Chorea, Ataxia, Retinal hemorrhage, Athetosis, Dysphagia |
ORPHA:25 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Eosinophilic Gastroenteritis |
|
Hematochezia, Weight loss, Dysphagia |
ORPHA:2070 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Somatic sensory dysfunction, Vascular tortuosity, Abnormal bleeding, ... |
ORPHA:90307 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor |
ORPHA:329971 |
| Pelizaeus-Merzbacher Disease |
|
Arteriovenous malformation, Failure to thrive in infancy, Cachexia, Ataxia, Choreoathetosis |
ORPHA:702 |
| Osteogenesis Imperfecta |
|
Arterial dissection, Aortic regurgitation, Aortic root aneurysm, Somatic sensory dysfunction, Aor... |
ORPHA:666 |
| Immunodeficiency 27A |
|
Weight loss, Anorexia |
OMIM:209950 |
| Superficial Siderosis |
|
Arteriovenous malformation, Impaired pain sensation, Abnormal bleeding, Impaired temperature sens... |
ORPHA:247245 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Paresthesia, Weight loss, Dysphagia |
ORPHA:298 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Weight loss, Anorexia |
ORPHA:2494 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Weight loss, Dysphagia |
ORPHA:216866 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Oromandibular Dystonia |
|
Bruxism, Weight loss, Dysphagia |
ORPHA:93958 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Pallor, Petechiae, Thrombocytopenia, Neutropenia, Anemia, Purpura |
ORPHA:90051 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Failure to thrive, Cardiomyopathy |
OMIM:251000 |
| Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... |
ORPHA:397 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Anemia, Thrombocytopenia, Short stature, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Pearson Syndrome |
|
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypopar... |
ORPHA:699 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Aortic aneurysm, Cerebral hemorrh... |
ORPHA:536545 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
| Diamond-Blackfan Anemia 10 |
|
Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Pica, Fetal intraventricular hemorrhage, Recurrent hand flapping |
OMIM:618480 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Positive Romberg sign, Gait ataxia, Dysmetria, Mitral regurgitation, Impa... |
OMIM:607459 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Agitation, Ec... |
ORPHA:340 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Anorexia, Oral aversion, Weight loss, Ataxia, Hypertension, Agitation |
ORPHA:134 |
| Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction |
ORPHA:60033 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age, Agitation, Hyperactivity |
ORPHA:424 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... |
ORPHA:97287 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Weight loss, Failure to thrive |
ORPHA:1842 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Slender build, Inappropriate laughter, Overfriendliness, Intraventricular hemorrh... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Slender build, Inappropriate laughter, Overfriendliness, Intraventricular hemorrh... |
ORPHA:363958 |
| Nephroblastoma |
|
Weight loss, Hypertension |
ORPHA:654 |
| Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia |
ORPHA:1933 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:142 |
| American Trypanosomiasis |
|
Pallor, Splenomegaly |
ORPHA:3386 |
| Perry Syndrome |
|
Weight loss, Inappropriate behavior, Disinhibition |
OMIM:168605 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Cachexia, A... |
ORPHA:109 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Pallor, Splenomegaly, Leukemia, Abnormality of neutrophils, Purpura |
ORPHA:33226 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ataxia |
OMIM:614424 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:1332 |
| Meningioma |
|
Cerebral hemorrhage, Obesity, Syncope, Ataxia |
ORPHA:2495 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Atherosclerosis |
ORPHA:1979 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
| Tarp Syndrome |
|
Tetralogy of Fallot, Athetosis, Subdural hemorrhage, Failure to thrive |
OMIM:311900 |
| Aspergillosis |
|
Stroke, Intracranial hemorrhage |
ORPHA:1163 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Cachexia, Paresthesia, Anorexia |
OMIM:175500 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa... |
ORPHA:183 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Hydranencephaly |
|
Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage, Abnormal internal carot... |
ORPHA:2177 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Anorexia, Pal... |
ORPHA:100075 |
| Secondary Short Bowel Syndrome |
|
Polyphagia, Weight loss, Failure to thrive, Atherosclerosis |
ORPHA:95427 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Hypertension, Failure to thrive, Ataxia |
OMIM:256700 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Anorexia |
ORPHA:1302 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Weight loss, Anorexia |
ORPHA:98850 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
| Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Spontaneous pain sensation, Congestive heart failure, Pa... |
ORPHA:91139 |
| Malignant Atrophic Papulosis |
|
Pain insensitivity, Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Weight loss, Telangi... |
ORPHA:679 |
| Kaposi Sarcoma |
|
Weight loss, Venous insufficiency |
ORPHA:33276 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Medulloblastoma |
|
Dysmetria, Cerebellar hemorrhage, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Pro... |
ORPHA:616 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... |
ORPHA:394 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hypotension, Polydipsia, Anorexia, Cachexia, Ataxia, Myocarditis, My... |
ORPHA:3452 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Somatic sensory dysfunction, Failure to thrive, Conge... |
ORPHA:3260 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
| Rheumatoid Arthritis |
|
Vasculitis, Weight loss |
OMIM:180300 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytopenia, Anemic pallor, Neutrope... |
OMIM:227645 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... |
ORPHA:906 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Hypovolemic shock, Arrhythmia, Weight loss |
ORPHA:171876 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
| Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Agitation |
ORPHA:99819 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Arrhythmia, Weight loss, Myocarditis, Pericarditis |
ORPHA:188 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Subarachnoid hemorrhage, Failure to thrive, Cerebral vasculitis |
OMIM:243700 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Leukocytosis, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| 8P23.1 Microdeletion Syndrome |
|
Tetralogy of Fallot, Hypertrophic cardiomyopathy, Obesity, Abnormal aortic morphology, Pulmonary ... |
ORPHA:251071 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Cardiomyopathy, Cherry red spot of the macula, Congestive heart failure, Oral ... |
ORPHA:354 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Arrhythmia, Ataxia |
ORPHA:42 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Pallor |
OMIM:246450 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Anorexia, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch blo... |
ORPHA:99827 |
| Dpagt1-Cdg |
|
Head-banging, Failure to thrive, Stroke-like episode, Stereotypical body rocking, Aggressive beha... |
ORPHA:86309 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:618291 |
| Lead Poisoning |
|
Anemia, Miscarriage, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Anorexia |
ORPHA:514 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Anemia, Elliptocytosis |
OMIM:300990 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hyperesthesia, Severe failure to thrive, Cachexia, Self-injurious behavior |
ORPHA:371364 |
| Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Bruising suscept... |
ORPHA:85443 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Weight loss, Syncop... |
ORPHA:71273 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... |
ORPHA:93672 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... |
ORPHA:464329 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
| Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia |
ORPHA:2785 |
| Yao Syndrome |
|
Weight loss, Pericarditis |
OMIM:617321 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss, Abnormal bleeding, Somatic sensory dysfunction, Anorexia |
ORPHA:370348 |
| Wolman Disease |
|
Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Death in infancy |
ORPHA:847 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Portal hypertension |
ORPHA:131 |
| Acute Adrenal Insufficiency |
|
Hypotension, Failure to thrive, Stroke, Salt craving, Weight loss, Orthostatic hypotension, Anore... |
ORPHA:95409 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss, Pulmonary venous hypertension |
ORPHA:90060 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Palpitations, Facial telangiectasia, Weight loss, Anorexia, Heart murmur |
ORPHA:100085 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia |
ORPHA:2930 |
| Hereditary Late-Onset Parkinson Disease |
|
Agitation, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Dysphagia, Impulsivity |
ORPHA:411602 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Subdural hemorrhage, Stroke, Pulmo... |
ORPHA:79282 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Distal sensory impairment, Cachexia, Weight loss, Hypoesthesia, Dysphagia |
OMIM:603041 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Cachexia, Dysphagia, Ataxia |
ORPHA:300605 |
| Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Weight loss, Prominent veins on trunk |
ORPHA:97289 |
| Pituitary Apoplexy |
|
Pallor, Normochromic anemia |
ORPHA:95613 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Chorea, Arterial stenosis, Venous insufficien... |
ORPHA:565 |
| Sheehan Syndrome |
|
Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Failure to thrive, Hypertrophic cardiomyopathy, Weight loss, Anorexia |
ORPHA:361 |
| Glucagonoma |
|
Acanthocytosis, Normochromic anemia |
ORPHA:97280 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... |
ORPHA:363618 |
| Neuroblastoma |
|
Anemia, Anemic pallor, Thrombocytopenia |
ORPHA:635 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Familial Colorectal Cancer Type X |
|
Attention deficit hyperactivity disorder, Gastrointestinal hemorrhage, Paresthesia, Weight loss |
ORPHA:440437 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| X-Linked Agammaglobulinemia |
|
Weight loss, Failure to thrive |
ORPHA:47 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Fumarase Deficiency |
|
Pallor, Polycythemia |
OMIM:606812 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... |
ORPHA:79430 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Weight loss |
ORPHA:324964 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Portal hypertension, Self-mutilation, Weight loss, Hypertension, Increased blo... |
OMIM:619487 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Carotid artery occlusion, Aortic regurgitation, Atherosclerosis, Left vent... |
ORPHA:740 |
| Acute Liver Failure |
|
Pain insensitivity, Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising suscept... |
ORPHA:90062 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... |
OMIM:175780 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Arachnoid Cyst |
|
Subarachnoid hemorrhage, Paresthesia, Distal sensory impairment, Disinhibition |
ORPHA:2356 |
| Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Raynaud phenomenon, Weight loss, Failure to thrive |
ORPHA:79128 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Dissociated sensory loss, Paresthesia,... |
ORPHA:139417 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Arrhythmia, Elevated jugular venou... |
ORPHA:465508 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss, Foam cells |
ORPHA:747 |
| Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Failure to thrive, Prolonged prothrombin time, Ataxia |
OMIM:212750 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Petechiae, Hypertension, Weight loss, Purpura |
ORPHA:85450 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
| Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Weight loss,... |
OMIM:164310 |
| Acrodermatitis Enteropathica |
|
Weight loss, Failure to thrive, Anorexia |
ORPHA:37 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Failure to thrive, Weight loss, Orthostatic hypotension, Anorexia |
ORPHA:199299 |
| Incontinentia Pigmenti |
|
Erythema, Eosinophilia, Leukocytosis, Pallor |
OMIM:308300 |
| Q Fever |
|
Vasculitis, Abnormal vascular morphology, Weight loss, Anorexia, Myocarditis, Abnormal left ventr... |
ORPHA:781 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227646 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Failure to thrive, Coronary artery atherosclerosis, Stroke, Cachexia, Weight loss, P... |
ORPHA:275761 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Hypertension, Palpitations |
ORPHA:1501 |
| Infantile Krabbe Disease |
|
Hyperesthesia, Failure to thrive, Cherry red spot of the macula, Cachexia, Abnormal heart rate va... |
ORPHA:206436 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive |
ORPHA:92050 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia, Dysphagia, Agitation |
ORPHA:803 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Polydipsia, Weight loss, Dysphagia, Sudden cardiac death |
ORPHA:537 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Glycogen Storage Disease Ii |
|
Sinus tachycardia, Dilatation of the cerebral artery, Shortened PR interval, Subarachnoid hemorrh... |
OMIM:232300 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Cardiac arrest, Weight loss |
ORPHA:139402 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia |
ORPHA:90362 |
| Felty Syndrome |
|
Weight loss, Pericarditis |
ORPHA:47612 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Poems Syndrome |
|
Hyperesthesia, Pulmonary arterial hypertension, Paresthesia, Weight loss |
ORPHA:2905 |
| Behçet Disease |
|
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Anorexia, Pare... |
ORPHA:117 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Weight loss, Polydipsia, Ataxia |
ORPHA:35687 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss, Anorexia |
ORPHA:100086 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Weight loss |
OMIM:608710 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Anorexia, Ischemic stroke, Weight loss, Va... |
ORPHA:48435 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Sudden cardiac death, Dysphagia, Myocardial infarction |
ORPHA:36426 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Aggressive behavior, Subdural hemorrhage |
OMIM:619714 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... |
ORPHA:100078 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Degcags Syndrome |
|
Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallor, Intrauterine growth retardation, Abnormal s... |
OMIM:619488 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Aggressive behavior, Cachexia, Obesity, Hyperactivity |
ORPHA:85293 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Impaired vibratory sensation, Phonic tics, Dilated cardiomyopathy, Head-... |
ORPHA:2388 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Weight loss, Failure to thrive, Ataxia |
ORPHA:99885 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Weight loss, Congestive heart failure |
ORPHA:67 |
| Pyomyositis |
|
Weight loss, Sudden cardiac death |
ORPHA:764 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Hemolytic anemia, Thrombocytopenia, Leukocytosis |
ORPHA:544482 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Cachexia, Ataxia |
ORPHA:220295 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... |
ORPHA:90324 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Budd-Chiari syndrome, Large vessel vasculitis, Weight loss, Anorexia, Renovascular hypertension, ... |
ORPHA:49041 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus |
ORPHA:163979 |
| Caroli Disease |
|
Weight loss, Portal hypertension, Anorexia |
ORPHA:53035 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Dysphagia, Failure to thrive |
ORPHA:1018 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Brucellosis |
|
Arteritis, Failure to thrive, Chorea, Transient ischemic attack, Weight loss, Anorexia, Myocardit... |
ORPHA:1304 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Pallor, Splenomegaly |
ORPHA:667 |
| Adult-Onset Still Disease |
|
Myocarditis, Weight loss, Pericarditis |
ORPHA:829 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral... |
ORPHA:900 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Alveolar Echinococcosis |
|
Budd-Chiari syndrome, Weight loss, Portal hypertension, Ataxia |
ORPHA:284 |
| Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive |
OMIM:619377 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Viss Syndrome |
|
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Failure to thrive, Bruisi... |
OMIM:619472 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Familial Pancreatic Carcinoma |
|
Weight loss, Anorexia |
ORPHA:1333 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity |
ORPHA:813 |
| Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interval, Weight loss, ... |
ORPHA:79102 |
| Juvenile Polyposis Of Infancy |
|
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal bleeding, Cachexia, Mele... |
ORPHA:79076 |
| Addison Disease |
|
Hypotension, Failure to thrive, Salt craving, Weight loss, Orthostatic hypotension, Anorexia |
ORPHA:85138 |
| Ppoma |
|
Gastrointestinal hemorrhage, Weight loss, Anorexia |
ORPHA:97278 |
| Xfe Progeroid Syndrome |
|
Cachexia, Hypertension, Failure to thrive |
OMIM:610965 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
| Von Hippel-Lindau Disease |
|
Pallor, Polycythemia |
ORPHA:892 |
| Systemic Lupus Erythematosus |
|
Chorea, Weight loss, Raynaud phenomenon, Anorexia, Hypertension |
ORPHA:536 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| Witteveen-Kolk Syndrome |
|
Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Intracrani... |
OMIM:613406 |
| Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Parathyroid Carcinoma |
|
Polydipsia, Weight loss, Dysphagia, Shortened QT interval |
ORPHA:143 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Weight loss, Anorexia |
ORPHA:97283 |
| Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Mitral regurgit... |
ORPHA:576 |
| Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Tortuous c... |
OMIM:613795 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Vasculitis, Anorexia, Weight loss, Vasculitis in the skin, Myocarditis |
ORPHA:50918 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Weight loss |
ORPHA:160 |
| Marfan Syndrome |
|
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art... |
ORPHA:558 |
| Lynch Syndrome |
|
Attention deficit hyperactivity disorder, Gastrointestinal hemorrhage, Paresthesia, Weight loss |
ORPHA:144 |
| Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Weight loss, Hematemesis, Hypertension |
OMIM:615846 |
| Grfoma |
|
Gastrointestinal hemorrhage, Weight loss, Anorexia |
ORPHA:97261 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Multiple Myeloma |
|
Paresthesia, Weight loss |
ORPHA:29073 |
| Insulin-Resistance Syndrome Type B |
|
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
| Microsporidiosis |
|
Myocarditis, Cachexia, Weight loss, Anorexia |
ORPHA:2552 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Dermatomyositis |
|
Vasculitis, Sinus tachycardia, Arrhythmia, Pulmonary arterial hypertension, Weight loss, Raynaud ... |
ORPHA:221 |
| Rat-Bite Fever |
|
Myocarditis, Weight loss, Pericarditis |
ORPHA:31205 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Calcification of the aorta, Limb ataxia, Ecchymosis, Spontaneous, recur... |
ORPHA:2072 |
| Reactive Arthritis |
|
Aortic regurgitation, Weight loss, Pericarditis |
ORPHA:29207 |
| African Trypanosomiasis |
|
Second degree atrioventricular block, Somatic sensory dysfunction, Third degree atrioventricular ... |
ORPHA:3385 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Portal hypertension, Weight l... |
ORPHA:171 |
| Camurati-Engelmann Disease |
|
Ataxia, Hypertrophic cardiomyopathy, Slender build, Cachexia, Anorexia |
ORPHA:1328 |
| Goodpasture Syndrome |
|
Anemia, Pallor |
OMIM:233450 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Weight loss |
ORPHA:913 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Dysphagia, Failure to thrive |
ORPHA:2020 |
| Pulmonary Alveolar Microlithiasis |
|
Calcification of the aorta, Weight loss, Right ventricular failure, Increased pulmonary vascular ... |
ORPHA:60025 |
| Cystinosis, Nephropathic |
|
Polydipsia, Failure to thrive, Failure to thrive in infancy, Weight loss, Dysphagia |
OMIM:219800 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Schwartz-Jampel Syndrome |
|
Decreased body weight, Attention deficit hyperactivity disorder, Cachexia, Pulmonary arterial hyp... |
ORPHA:800 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Bruising susceptibility, Anorexia, Capillary fragility, Ecchymosis, Increased body weight, Hypert... |
ORPHA:99889 |
| Fanconi Anemia |
|
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor... |
ORPHA:84 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Weight loss, Anorexia |
OMIM:181000 |
| Vipoma |
|
Weight loss, Anorexia |
ORPHA:97282 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Nocardiosis |
|
Anorexia, Weight loss, Pericarditis |
ORPHA:31204 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Cockayne Syndrome |
|
Vascular calcification, Retinal arteriolar constriction, Somatic sensory dysfunction, Atheroscler... |
ORPHA:191 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
| Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
| Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Anorexia, Weight loss, Hematemesis, Melena, Hypertension |
ORPHA:652 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Igg4-Related Kidney Disease |
|
Arteritis, Weight loss, Abnormal aortic morphology, Pericarditis |
ORPHA:449395 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Weight loss, Vasculitis in the skin |
OMIM:619381 |
| Nijmegen Breakage Syndrome |
|
Attention deficit hyperactivity disorder, Cachexia |
ORPHA:647 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Failure to thrive, Shock, Weight loss, Hypovolemia |
ORPHA:90794 |
| Chronic Graft Versus Host Disease |
|
Weight loss, Dysphagia, Anorexia |
ORPHA:99921 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Weight loss, Anorexia |
ORPHA:91500 |
| Norrie Disease |
|
Self-injurious behavior, Failure to thrive, Venous insufficiency, Cachexia, Attention deficit hyp... |
ORPHA:649 |
| Pmm2-Cdg |
|
Failure to thrive, Hypertrophic cardiomyopathy, Angina pectoris, Ataxia, Intracranial hemorrhage,... |
ORPHA:79318 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
| Sarcoidosis |
|
Portal hypertension, Arrhythmia, Weight loss, Abnormal cardiac ventricular function, Ventricular ... |
ORPHA:797 |
| Stickler Syndrome |
|
Slender build, Cachexia, Arrhythmia |
ORPHA:828 |
| Proteus Syndrome |
|
Arteriovenous malformation, Pulmonary embolism, Venous malformation, Cachexia, Sudden cardiac death |
ORPHA:744 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
