| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
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 |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Abetal34V Amyloidosis |
|
Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ... |
ORPHA:324703 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... |
ORPHA:101108 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage, Dysphagia |
ORPHA:324708 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death in childhood, Anemia |
OMIM:616457 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| 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 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Harderoporphyria |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Chronic Hiccup |
|
Abnormal eating behavior, Weight loss |
ORPHA:396 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Failur... |
OMIM:263400 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Death in infancy, Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Idiopathic Achalasia |
|
Dysphagia, Weight loss |
ORPHA:930 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Impaired distal tactile sensation |
OMIM:182410 |
| Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis |
OMIM:232800 |
| Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hem... |
ORPHA:97339 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:94080 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Ataxia, Cerebral hemorrhage |
ORPHA:542310 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Isaacs Syndrome |
|
Distal sensory impairment, Weight loss |
ORPHA:84142 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Limb ataxia, ... |
OMIM:617633 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Huntington Disease-Like 2 |
|
Chorea, Weight loss |
ORPHA:98934 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia |
ORPHA:848 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Cachexia, Chorea, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Dysphagia, Weight loss |
ORPHA:2198 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
| Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Chorea, Arterial stenosis |
ORPHA:820 |
| Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Chorea, Gait ataxia, Weight loss, Progressive cerebellar ataxia |
ORPHA:248111 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Compulsive behaviors, Moya... |
ORPHA:401986 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Neuromuscula... |
ORPHA:449285 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Thrombocytopenia, Death in adolescence |
OMIM:619751 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Liposarcoma |
|
Varicose veins, Paresthesia, Weight loss |
ORPHA:69078 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Pallor |
OMIM:613561 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Pleural Mesothelioma |
|
Obstruction of the superior vena cava, Abnormal cardiovascular system physiology, Dysphagia, Weig... |
ORPHA:50251 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Ataxia, Transient ischemic attack, Intracranial hemorrhage, Stroke |
ORPHA:140989 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:276621 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Chorea, Weight loss, Addictive alcohol use, Agita... |
ORPHA:399 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
| Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... |
OMIM:603903 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| Huntington Disease-Like 2 |
|
Chorea, Weight loss |
OMIM:606438 |
| Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia, Dysphagia |
ORPHA:363717 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Takayasu Arteritis |
|
Hypertensive crisis, Myocardial infarction, Anorexia, Vasculitis, Arterial stenosis, Weight loss,... |
ORPHA:3287 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Fetal Parvovirus Syndrome |
|
Intrauterine growth retardation, Thrombocytopenia, Anemia |
ORPHA:295 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Bradycardia, Petechiae, Cerebral hemorrhage |
OMIM:617397 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:29072 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Weight loss |
ORPHA:3226 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss |
ORPHA:85447 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c |
OMIM:618858 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive |
OMIM:616430 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
| Christianson Syndrome |
|
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... |
ORPHA:85278 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Hypertension, Dysphagia |
ORPHA:97229 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Chylomicron Retention Disease |
|
Acanthocytosis |
ORPHA:71 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Mcleod Syndrome |
|
Splenomegaly, Acanthocytosis |
OMIM:300842 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Anemia |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Anemia |
OMIM:618839 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Athetosis, Second degree atrioventricular block, Hypertension... |
ORPHA:369929 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Failure to thrive, Small for gestational... |
OMIM:619055 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia |
ORPHA:90033 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Classic Hodgkin Lymphoma |
|
Ataxia, Anorexia, Weight loss |
ORPHA:391 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypotension, Internal hem... |
ORPHA:244242 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage, Dysphagia |
OMIM:620278 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Failure to thrive |
ORPHA:79284 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Oral cavity ble... |
ORPHA:520 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Weight loss |
ORPHA:1164 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Death in infancy, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Dysphagia, Weight loss |
ORPHA:97286 |
| Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss |
ORPHA:98897 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Huntington Disease-Like 1 |
|
Restlessness, Chorea, Dysmetria, Gait ataxia, Weight loss |
ORPHA:157941 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Intraventricular hemorrhage, Telangiectasia, Weight loss |
ORPHA:420741 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis |
OMIM:608885 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Severe short stature, Truncus arteriosus, Ventricular septal defect, Congenital ... |
OMIM:601186 |
| Familial Thrombocytosis |
|
Abnormal bleeding, Transient ischemic attack, Peripheral arterial stenosis, Weight loss, Syncope,... |
ORPHA:71493 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia |
ORPHA:157973 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Self-injurious behavior, Obsessi... |
ORPHA:324636 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Self-mutilation |
ORPHA:52503 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Failure to thrive, Anorexia |
OMIM:241500 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia |
OMIM:602361 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Jaw claudication, Weight loss, Syncope, Bradycardia, Vasc... |
ORPHA:221098 |
| Fatal Familial Insomnia |
|
Ataxia, Dysphagia, Weight loss |
OMIM:600072 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... |
ORPHA:100080 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Weight loss |
ORPHA:103910 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Abetalipoproteinemia |
|
Reticulocytosis, Anemia, Acanthocytosis |
ORPHA:14 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Weight loss |
ORPHA:79242 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Acanthocytosis |
ORPHA:96180 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Weight loss |
ORPHA:168816 |
| Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Weight loss |
ORPHA:69077 |
| Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100082 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Gerstmann-Straussler Disease |
|
Aggressive behavior, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia |
OMIM:137440 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive |
OMIM:606054 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Rett Syndrome |
|
Cachexia, Bruxism, Gait ataxia, Truncal ataxia, Abnormal T-wave, Prolonged QTc interval, Stereoty... |
OMIM:312750 |
| 8P11.2 Deletion Syndrome |
|
Splenomegaly, Hemolytic anemia, Spherocytosis |
ORPHA:251066 |
| Flynn-Aird Syndrome |
|
Atherosclerosis, Ataxia, Cachexia, Impaired pain sensation |
ORPHA:2047 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage |
OMIM:608836 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conduction, Weight loss, Abnormal... |
ORPHA:3208 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro... |
OMIM:557000 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive |
OMIM:251000 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology, Weight loss |
ORPHA:99868 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Weight loss |
ORPHA:65682 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive, Bruis... |
ORPHA:905 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Mirage Syndrome |
|
Short stature, Cryptorchidism, Esophageal stricture, Thrombocytopenia, Leukopenia, Decreased body... |
OMIM:617053 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Weight loss, Ascending tubular aorta a... |
ORPHA:449400 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Chorea, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Dysphagia |
ORPHA:25 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Arteriovenous malformation |
ORPHA:702 |
| Superficial Siderosis |
|
Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Impaired pain sensation, Impaired temperature... |
ORPHA:247245 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Somatic sensory dysfunction, Small for gestational age, Ataxia, Cerebral he... |
ORPHA:666 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Weight loss |
ORPHA:2494 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Somatic sensory dysfunction, Peripheral arteriovenous fistula, Cerebral arteri... |
ORPHA:90307 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... |
ORPHA:699 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Sepsis In Premature Infants |
|
Petechiae, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutropenia, Thrombocytopenia, Purpura |
ORPHA:90051 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Paresthesia, Dysphagia, Cachexia, Weight loss |
ORPHA:298 |
| Oromandibular Dystonia |
|
Bruxism, Dysphagia, Weight loss |
ORPHA:93958 |
| Eosinophilic Gastroenteritis |
|
Hematochezia, Dysphagia, Weight loss |
ORPHA:2070 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... |
ORPHA:536545 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Petechiae, Anemia, Purpura |
OMIM:620296 |
| Giant Cell Arteritis |
|
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Weight loss, Paresth... |
ORPHA:397 |
| Immunodeficiency 27A |
|
Anorexia, Weight loss |
OMIM:209950 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... |
ORPHA:330001 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Recurrent hand flapping, Pica |
OMIM:618480 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Dysphagia, Weight loss |
ORPHA:216866 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation, Dilate... |
OMIM:607459 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Failure to thrive, Weight loss |
ORPHA:1842 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Weight loss |
OMIM:168605 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Small for gestational age, Intraventricular hemorrhage, Cardiomyopathy, Inappro... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Small for gestational age, Intraventricular hemorrhage, Cardiomyopathy, Inappro... |
ORPHA:363958 |
| Nephroblastoma |
|
Hypertension, Weight loss |
ORPHA:654 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Attention deficit hyperactivity disorder |
ORPHA:447788 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Weight loss, Hypertension, Agitation, Hypotension, Oral aversion |
ORPHA:134 |
| Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:1332 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ataxia |
OMIM:614424 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, S... |
ORPHA:109 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura |
ORPHA:33226 |
| Meningioma |
|
Syncope, Ataxia, Obesity, Cerebral hemorrhage |
ORPHA:2495 |
| Tarp Syndrome |
|
Athetosis, Failure to thrive, Subdural hemorrhage, Tetralogy of Fallot |
OMIM:311900 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Paresthesia, Cachexia, Anorexia |
OMIM:175500 |
| American Trypanosomiasis |
|
Splenomegaly, Pallor |
ORPHA:3386 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Atherosclerosis, Cachexia, Weight loss |
ORPHA:1979 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Small for gestational age, Weight loss |
ORPHA:424 |
| Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
| Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Failure to thrive, Ataxia, Weight loss |
OMIM:256700 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pain insensitivity, Telangiectasia of the skin, Myocardial infarctio... |
ORPHA:679 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Palpitations, Hypotens... |
ORPHA:97287 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Atherosclerosis, Polyphagia, Weight loss |
ORPHA:95427 |
| Anaplastic Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:142 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Purpura, Pericarditis, Myocardial infarction, Raynaud phenomenon, Co... |
ORPHA:91139 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia |
ORPHA:60033 |
| Aspergillosis |
|
Intracranial hemorrhage, Stroke |
ORPHA:1163 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Weight loss, Hypotension |
ORPHA:98850 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, P... |
ORPHA:100075 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Intracranial hemorrhage, Hypertension,... |
ORPHA:394 |
| Rheumatoid Arthritis |
|
Vasculitis, Weight loss |
OMIM:180300 |
| Kaposi Sarcoma |
|
Venous insufficiency, Weight loss |
ORPHA:33276 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Medulloblastoma |
|
Ataxia, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associ... |
ORPHA:616 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
| Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Cachexia, Anorexia, Myo... |
ORPHA:3452 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Intrauterine growth retardat... |
OMIM:227645 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc... |
ORPHA:99826 |
| Idiopathic Hypereosinophilic Syndrome |
|
Somatic sensory dysfunction, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary em... |
ORPHA:3260 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| 8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Obesity, Weight loss, Abnormal aortic morpho... |
ORPHA:251071 |
| Gm1 Gangliosidosis |
|
Ataxia, Congestive heart failure, Patent ductus arteriosus, Weight loss, Cardiomyopathy, Oral ave... |
ORPHA:354 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Weight loss |
ORPHA:171876 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Leukopenia, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Ataxia, Cachexia |
ORPHA:42 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Elliptocytosis, Anemia |
OMIM:300990 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:618291 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ja... |
ORPHA:85443 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Self-injurious behavior, Hyperesthesia, Cachexia |
ORPHA:371364 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
| Lead Poisoning |
|
Miscarriage, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia |
ORPHA:188 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia |
ORPHA:2785 |
| Yao Syndrome |
|
Pericarditis, Weight loss |
OMIM:617321 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Aggressive behavior, Head-banging, Stroke-like episode, Intracrani... |
ORPHA:86309 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,... |
ORPHA:71273 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Somatic sensory dysfunction, Anorexia, Weight loss |
ORPHA:370348 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Abnormal repetitive mannerisms, Cerebral hemorrhage |
OMIM:616682 |
| Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... |
ORPHA:464329 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia |
ORPHA:2930 |
| Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Weight loss, Agitation, Dysphagia, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:411602 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary arteri... |
ORPHA:79282 |
| Wolman Disease |
|
Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Salt craving, Myocardial infarction, Anorexia, Hypovolemia, Weight loss,... |
ORPHA:95409 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Weight loss |
ORPHA:131 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Ataxia, Cachexia, Dysphagia |
ORPHA:300605 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Dysphagia, Slender build |
OMIM:603041 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Chorea, Arterial stenosis, Intracranial hemorr... |
ORPHA:565 |
| Glucagonoma |
|
Normochromic anemia, Acanthocytosis |
ORPHA:97280 |
| Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk, Weight loss |
ORPHA:97289 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Heart murmur, Weight loss, Palpitations, Facial telangiectasia |
ORPHA:100085 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Weight loss |
ORPHA:90060 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:361 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Paresthesia, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:144 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Weight loss |
ORPHA:324964 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Weight loss, Hypertension, Increased blood pressure, Failure t... |
OMIM:619487 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Weight loss, Cardiomyopathy,... |
ORPHA:79430 |
| Fumarase Deficiency |
|
Polycythemia, Pallor |
OMIM:606812 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Angina pectoris, Left ventricular systolic dysfunction, Myocardial infarcti... |
ORPHA:740 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
| Arachnoid Cyst |
|
Disinhibition, Paresthesia, Subarachnoid hemorrhage, Distal sensory impairment |
ORPHA:2356 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Paresthesia, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:440437 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Shock, Ataxia, Intracranial h... |
ORPHA:90062 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Congestive heart failure, Weight loss, Cardiomyopathy, Arrhythmia, Elevated ... |
ORPHA:465508 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time, Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Weight loss, Hypertension, Petechiae, Purpura |
ORPHA:85450 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Anorexia, Weight loss |
ORPHA:37 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Orthostatic hypotension, Subarachnoid ... |
ORPHA:139417 |
| Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
| Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Pulmonary venous hypertension, Failure to thrive, Weight loss |
ORPHA:79128 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Dilated cardiomyopathy, Weight loss, Dysphagia, Hypertrop... |
OMIM:164310 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Q Fever |
|
Pericarditis, Anorexia, Abnormal vascular morphology, Myocarditis, Vasculitis, Weight loss, Abnor... |
ORPHA:781 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Anorexia, Weight loss, Hypotension, Failure to thrive |
ORPHA:199299 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Adrenocortical Carcinoma |
|
Hypertension, Palpitations, Increased body weight, Weight loss |
ORPHA:1501 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Paresthesia, Hyperesthesia, Weight loss |
ORPHA:2905 |
| Infantile Krabbe Disease |
|
Cachexia, Abnormal heart rate variability, Hyperesthesia, Cherry red spot of the macula, Failure ... |
ORPHA:206436 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Cachexia, Hypovolemia, Weight loss, Stroke, H... |
ORPHA:275761 |
| Felty Syndrome |
|
Pericarditis, Weight loss |
ORPHA:47612 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
| Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, P... |
ORPHA:117 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Weight loss |
ORPHA:100086 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Foam cells, Weight loss |
ORPHA:747 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Abnormal lymphatic vessel morphology, Weight loss |
ORPHA:90362 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Weight loss, Dysphagia, Polydipsia |
ORPHA:537 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Cardiac arrest, Weight loss |
ORPHA:139402 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Anorexia, Raynaud phenomenon, Weight loss, Cardiomyopathy,... |
ORPHA:48435 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Weight loss |
OMIM:608710 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... |
ORPHA:100078 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage, Aggressive behavior |
OMIM:619714 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Polydipsia, Ataxia, Weight loss |
ORPHA:35687 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Obesity, Cachexia, Aggressive behavior |
ORPHA:85293 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Weight loss, Dysphagia |
ORPHA:36426 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Degcags Syndrome |
|
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... |
OMIM:619488 |
| Pyomyositis |
|
Sudden cardiac death, Weight loss |
ORPHA:764 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Ataxia, Cachexia |
ORPHA:220295 |
| Choreoacanthocytosis |
|
Impaired vibratory sensation, Self-mutilation of tongue and lips due to involuntary movements, Hy... |
ORPHA:2388 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Renovascular hypertension, Large vessel vasculitis, Weight loss, Hypertension, Budd-Chi... |
ORPHA:49041 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Congestive heart failure, Weight loss |
ORPHA:67 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Thrombocytopenia |
ORPHA:544482 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Patent ductus arteriosus, Heart murmur, Interrupted aortic arch |
ORPHA:163979 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... |
ORPHA:90324 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Failure to thrive, Ataxia, Weight loss |
ORPHA:99885 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pallor, Anemia |
ORPHA:667 |
| Brucellosis |
|
Pericarditis, Small for gestational age, Transient ischemic attack, Anorexia, Myocarditis, Chorea... |
ORPHA:1304 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Dysphagia, Weight loss |
ORPHA:1018 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
| Caroli Disease |
|
Anorexia, Portal hypertension, Weight loss |
ORPHA:53035 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Familial Pancreatic Carcinoma |
|
Anorexia, Weight loss |
ORPHA:1333 |
| Alveolar Echinococcosis |
|
Ataxia, Budd-Chiari syndrome, Portal hypertension, Weight loss |
ORPHA:284 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... |
ORPHA:79102 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Addison Disease |
|
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Hypotension, Failure to thrive |
ORPHA:85138 |
| Viss Syndrome |
|
Carotid artery tortuosity, Epidural hemorrhage, Tortuous cerebral arteries, Abnormal branching pa... |
OMIM:619472 |
| Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Hematochezia,... |
ORPHA:79076 |
| Ppoma |
|
Gastrointestinal hemorrhage, Anorexia, Weight loss |
ORPHA:97278 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Pallor |
ORPHA:892 |
| Xfe Progeroid Syndrome |
|
Hypertension, Failure to thrive, Cachexia |
OMIM:610965 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Witteveen-Kolk Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Obesity, Intracranial hemorrhage, ... |
OMIM:613406 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Polydipsia, Dysphagia, Weight loss |
ORPHA:143 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Anorexia, Weight loss |
ORPHA:97283 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Anorexia, Myocarditis, Vasculitis, Weight loss, Vasculitis in the skin |
ORPHA:50918 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
| Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... |
ORPHA:221 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi... |
ORPHA:576 |
| Grfoma |
|
Gastrointestinal hemorrhage, Anorexia, Weight loss |
ORPHA:97261 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Multiple Myeloma |
|
Paresthesia, Weight loss |
ORPHA:29073 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Weight loss |
ORPHA:160 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Vasculitis, Weight loss, Hematochezia, Hypertension, Hypertrophic cardiomyopathy |
OMIM:615846 |
| Marfan Syndrome |
|
Cachexia, Congestive heart failure, Descending aortic dissection, Dilatation of an abdominal arte... |
ORPHA:558 |
| Vipoma |
|
Hematochezia, Anorexia, Weight loss |
ORPHA:97282 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
| Microsporidiosis |
|
Anorexia, Myocarditis, Cachexia, Weight loss |
ORPHA:2552 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Calcification of the aorta, Limb ataxia, Varicose vei... |
ORPHA:2072 |
| African Trypanosomiasis |
|
Abnormal EKG, Somatic sensory dysfunction, Pericarditis, Aggressive behavior, Myocarditis, Conges... |
ORPHA:3385 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Weight loss |
ORPHA:29207 |
| Rat-Bite Fever |
|
Myocarditis, Pericarditis, Weight loss |
ORPHA:31205 |
| Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Dilated superficial abdominal v... |
ORPHA:171 |
| Camurati-Engelmann Disease |
|
Ataxia, Cachexia, Anorexia, Hypertrophic cardiomyopathy, Slender build |
ORPHA:1328 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Dysphagia, Weight loss |
ORPHA:2020 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Weight loss |
ORPHA:913 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Attention deficit hyperactivity disorder, Decreased body weight, Pulmonary arterial hyp... |
ORPHA:800 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Myocardial infarction, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal o... |
ORPHA:99889 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Calcification of the aorta, Right ventricular failure, W... |
ORPHA:60025 |
| Fanconi Anemia |
|
Patent ductus arteriosus, Weight loss, Abnormal carotid artery morphology, Abnormal aortic morpho... |
ORPHA:84 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Anorexia, Weight loss |
OMIM:181000 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Nocardiosis |
|
Pericarditis, Anorexia, Weight loss |
ORPHA:31204 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension |
ORPHA:652 |
| Cockayne Syndrome |
|
Somatic sensory dysfunction, Ataxia, Cachexia, Retinal hemorrhage, Hypertension, Progressive gait... |
ORPHA:191 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
| Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Nijmegen Breakage Syndrome |
|
Attention deficit hyperactivity disorder, Cachexia |
ORPHA:647 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Vasculitis in the skin, Anorexia, Weight loss |
OMIM:619381 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Weight loss, Hypotension, Failure to thrive |
ORPHA:90794 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Anorexia, Weight loss |
ORPHA:91500 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Abnormal aortic morphology, Arteritis, Weight loss |
ORPHA:449395 |
| Chronic Graft Versus Host Disease |
|
Dysphagia, Anorexia, Weight loss |
ORPHA:99921 |
| Norrie Disease |
|
Cachexia, Venous insufficiency, Self-injurious behavior, Attention deficit hyperactivity disorder... |
ORPHA:649 |
| Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Ataxia, Intracranial hemorrhage, Hypertrophic cardiomyopathy, Fail... |
ORPHA:79318 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... |
ORPHA:797 |
| Stickler Syndrome |
|
Arrhythmia, Slender build, Cachexia |
ORPHA:828 |
| Proteus Syndrome |
|
Sudden cardiac death, Arteriovenous malformation, Cachexia, Pulmonary embolism |
ORPHA:744 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
