Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... |
ORPHA:36382 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Hepatic failure, Delayed onset bleeding, Prolonged bleeding followi... |
ORPHA:331 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Hereditary Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Abnormality of the liver, Respiratory failure, Myocardial infarction, R... |
ORPHA:132 |
Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
Sneddon Syndrome |
|
Livedo, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Livedo reticularis, Cerebral h... |
OMIM:182410 |
Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... |
ORPHA:90064 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Purpura, Pulmonary embolism |
OMIM:614514 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Dengue Fever |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Cardiorespiratory arrest, Hypotension,... |
ORPHA:99828 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations |
OMIM:116860 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Dural Sinus Malformation |
|
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... |
ORPHA:97339 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage |
ORPHA:98880 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... |
ORPHA:136 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:94080 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Cerebral hemo... |
OMIM:617397 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Premature graying of hair, Moyamoya phenomenon, Ischemic stroke, Coronary... |
ORPHA:280679 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:616081 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Snakebite Envenomation |
|
Gingival bleeding, Erythema, Hypotension, Epistaxis, Abnormal bleeding, Cardiogenic shock, Angioe... |
ORPHA:449285 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Bruising s... |
OMIM:277450 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin... |
OMIM:620300 |
Breath-Holding Spells |
|
Pallor, Cyanosis |
OMIM:607578 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Plethora, Cerebral hemorrhage, Hypertension, Myocardial infarction |
OMIM:133100 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory failure |
ORPHA:890 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Pallor, Res... |
OMIM:613561 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... |
OMIM:187300 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:31825 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... |
ORPHA:90065 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Varicose veins, Plethora, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Elevated circulating aspartate aminotra... |
OMIM:245400 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Pallor, Splenomegaly, Hepatomegaly, Intracrania... |
ORPHA:3226 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Redundant neck skin, Respiratory insufficiency |
ORPHA:2901 |
Acquired Purpura Fulminans |
|
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderm... |
ORPHA:49566 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death |
OMIM:611890 |
Buerger Disease |
|
Vasculitis, Arterial occlusion, Skin ulcer, Intermittent claudication, Livedo reticularis, Raynau... |
ORPHA:36258 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Premature graying of hair, Moy... |
OMIM:300845 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory failure... |
OMIM:610127 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Respiratory insufficiency, Hypertrophic cardiomyopathy, Pa... |
ORPHA:848 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Elevated circulating hepatic transaminase concentration, Dilated c... |
OMIM:608836 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Sneddon Syndrome |
|
Vascular skin abnormality, Arterial stenosis, Cutis marmorata, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Petechiae, Vasculitis in the skin, Hepatomegaly, Purpura, Respiratory failure |
OMIM:620296 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:266 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Stillbirth, Hepatomega... |
ORPHA:85212 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... |
OMIM:619386 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... |
ORPHA:465 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, C... |
OMIM:600376 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Death in infancy, Respiratory insufficiency |
OMIM:618886 |
Evans Syndrome |
|
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Jaundice |
ORPHA:1959 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Cerebral hemo... |
OMIM:263300 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... |
ORPHA:853 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure |
OMIM:616794 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure |
OMIM:276950 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pallor, Splenomegaly, Hydrocephalus, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus |
OMIM:618302 |
Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:276621 |
Hyperekplexia 4 |
|
Respiratory failure, Umbilical hernia |
OMIM:618011 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Bradycardia |
OMIM:616277 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan... |
ORPHA:774 |
Congenital Myopathy 14 |
|
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... |
ORPHA:276575 |
Immunodeficiency 95 |
|
Respiratory failure |
OMIM:619773 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... |
ORPHA:276556 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Stroke-like epis... |
ORPHA:70472 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... |
ORPHA:860 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... |
OMIM:605714 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Pulmonary arterial hyp... |
OMIM:265120 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure |
ORPHA:91130 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Splenomegaly, Cyanosis, Pulmonary arterial hyp... |
ORPHA:2414 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Death in childhood, Death in infancy, Cerebral hemorrhage, Respiratory failure |
OMIM:620278 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Pallor, Stroke, Paroxysmal atrial tachycardia, Cardiac arrest |
ORPHA:49827 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Hemophilia B |
|
Poor wound healing, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontane... |
ORPHA:98879 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... |
ORPHA:276580 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Cardiomyopathy, Hepatic steatosis, Death in childhood, Neonatal death, ... |
OMIM:614922 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... |
OMIM:177850 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Hepatomegaly, Heart murmur, Respiratory ... |
ORPHA:99931 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Jaundice, Pallor, Splenomegaly |
OMIM:615631 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hepatomegaly, Hypertension, Re... |
ORPHA:363400 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Cyanosis, Hydrocephalus, Spina bifida |
OMIM:207950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal death, Death in a... |
OMIM:619055 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... |
ORPHA:254875 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:90117 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly |
ORPHA:75563 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Splenomegaly, CNS foam cells, Foam cell... |
OMIM:607625 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Respiratory insufficiency,... |
ORPHA:33226 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Respirato... |
OMIM:609981 |
Pulmonary Arteriovenous Malformation |
|
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... |
ORPHA:2038 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Hepatic sinusoidal dilatation, Respiratory insufficiency, Tricuspid regurgitatio... |
OMIM:620371 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:2590 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in ... |
ORPHA:1194 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:29072 |
Tricuspid Atresia |
|
Cyanosis, Persistent left superior vena cava, Coarctation of aorta, Transposition of the great ar... |
ORPHA:1209 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Hypoxemia, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Respiratory failure |
ORPHA:70587 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Hypoplasia of the maxilla |
ORPHA:2776 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Pet... |
ORPHA:824 |
Hemoglobin D Disease |
|
Pallor, Splenomegaly |
ORPHA:90039 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia |
ORPHA:324575 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage, Respiratory failure, Respiratory insufficiency due to ... |
OMIM:618291 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... |
ORPHA:231222 |
1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Intraventricular hemorrhage, Cutis marmorata |
ORPHA:401986 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,... |
OMIM:614299 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin ulcer, Pallor, S... |
ORPHA:507 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Intrauterine growth retardation, Respiratory failure, Death in infancy |
OMIM:610678 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Hypotension, Shock, Pancreatitis, Abnormal blood gas level, Hypoxemia, Respiratory fa... |
ORPHA:70578 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... |
ORPHA:335 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Pallor, Splenomegaly, Cholecystitis, Hepatomegal... |
OMIM:266200 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory failure |
OMIM:263000 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Patent ductus arteriosus |
OMIM:616867 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Skin ulcer, Vascular tortuosity, Abnormal bleeding, Venou... |
ORPHA:90307 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Short stature, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hydrocephalus, Mandibula... |
OMIM:620157 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Skin ulcer, Pulmonary embolism, Venous insufficiency, Arrhythmia, Int... |
ORPHA:624 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Menkes Disease |
|
Intrauterine growth retardation, Cutis laxa, Intracranial hemorrhage, Death in childhood |
OMIM:309400 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Vascular granular osmiophilic material deposition, Neonatal respiratory distress, Respiratory fai... |
ORPHA:168486 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Hypoplastic fr... |
OMIM:136760 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Primary Angiitis Of The Central Nervous System |
|
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis |
ORPHA:140989 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Death in infancy |
ORPHA:2481 |
Riddle Syndrome |
|
Neonatal asphyxia, Erythema, Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorr... |
ORPHA:420741 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Intrauterine growth retardation, Cyanosis, Hepatomegaly, Hypoxemia, Syst... |
ORPHA:555874 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100006 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Death in infancy, Neonatal death, Pulmonary arterial hypertension, Res... |
OMIM:605711 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Leigh Syndrome, Nuclear |
|
Hepatocellular necrosis, Respiratory failure, Respiratory insufficiency |
OMIM:256000 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Redundant skin, Neonatal death, Palmoplantar cutis laxa, Pulmonary arte... |
OMIM:616482 |
Rheumatic Fever |
|
Erythema, Epistaxis, Respiratory insufficiency, Pallor, Arrhythmia, Myocarditis, Pericarditis |
ORPHA:3099 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Promine... |
OMIM:614886 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Dental Anomalies And Short Stature |
|
Short stature, Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta |
OMIM:601216 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... |
ORPHA:444013 |
Acys Amyloidosis |
|
Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100008 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
Asbestos Intoxication |
|
Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugular reflux, Hypox... |
ORPHA:2302 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Hypoplasia of the maxilla, Malar flattening |
ORPHA:93262 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short stature, Hypoplasia of the maxilla |
OMIM:156510 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Acute Lung Injury |
|
Diffuse alveolar hemorrhage, Shock, Respiratory failure, Acute pancreatitis, Hypoxemia |
ORPHA:178320 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory insufficiency, Congestive heart failure, Cholecystitis, Splenomegaly,... |
OMIM:615512 |
Dravet Syndrome |
|
Pallor, Cyanotic episode |
ORPHA:33069 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:618186 |
X-Linked Intellectual Disability, Porteous Type |
|
Short stature, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93945 |
Boutonneuse Fever |
|
Petechiae, Elevated circulating hepatic transaminase concentration, Respiratory failure, Vasculitis |
ORPHA:83313 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Decreased liver function |
ORPHA:79327 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Facial erythema, Hypoxemia |
ORPHA:284227 |
Myelofibrosis |
|
Hepatomegaly, Purpura, Pallor, Splenomegaly |
OMIM:254450 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage, Death in infancy, Respiratory insufficiency |
OMIM:615368 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Lowry-Maclean Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the abdominal organs, Retrognathia, Intrauterine growth... |
ORPHA:2409 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... |
ORPHA:90068 |
Hellp Syndrome |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Poor wound healing, Interna... |
ORPHA:244242 |
American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Arrhythmia, Myocarditis, Hepatome... |
ORPHA:3386 |
Sepsis In Premature Infants |
|
Hypotension, Abnormal bleeding, Decreased liver function, Pallor, Splenomegaly, Petechiae, Cyanos... |
ORPHA:90051 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... |
ORPHA:159 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Respiratory failure |
OMIM:620326 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Poor wound healing, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupt... |
ORPHA:536545 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy, Respiratory failure, Respiratory insufficiency due to muscle ... |
ORPHA:352447 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly |
ORPHA:75564 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Short stature, Intrauterine growth retardation, Hypoplasia of the maxilla |
OMIM:608154 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intrauterine growth retardation, Intraventricular hemorrhage, Reduced number of intrahepatic bile... |
ORPHA:79284 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Myelopathy, Respiratory failure, Death in childhood |
OMIM:617186 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage, Premature graying of hair |
OMIM:277175 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Respiratory failure |
ORPHA:98913 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Vasculitis, Gastrointestinal hemorrhage, Peritonitis, Hepatomegaly, Acrocyanosis, Purpu... |
ORPHA:343 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Carotid artery dilatation, Pate... |
ORPHA:91387 |
20P12.3 Microdeletion Syndrome |
|
Short stature, Hypoplasia of the maxilla, Malar flattening |
ORPHA:261295 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Intrauterine growth retardat... |
ORPHA:2257 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Polysplenia, Abnormal inferior vena cava morphology, Persistent le... |
ORPHA:244 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia |
ORPHA:90033 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure |
OMIM:312170 |
Cardiogenic Shock |
|
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... |
ORPHA:97292 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... |
ORPHA:542323 |
Myopathic Ehlers-Danlos Syndrome |
|
Poor wound healing, Pallor |
ORPHA:536516 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia |
OMIM:246560 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Cerebral hemorrhage |
OMIM:301081 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Respiratory failure |
OMIM:250940 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... |
ORPHA:231226 |
Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure |
ORPHA:75840 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Respiratory insu... |
OMIM:609015 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Shortened PR interval, Low-output congest... |
ORPHA:308552 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Anomalou... |
ORPHA:99104 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Splenomegaly, Congestive heart failure |
ORPHA:90037 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Cardiorespiratory arrest, Occipital encephalocele, Tricuspid regurgitation, Mit... |
OMIM:619879 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Elevated circulatin... |
OMIM:261680 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts |
OMIM:616307 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Acquired Methemoglobinemia |
|
Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia |
ORPHA:464453 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
Criss-Cross Heart |
|
Respiratory insufficiency, Supravalvular aortic stenosis, Mitral stenosis, Cyanosis, Transpositio... |
ORPHA:1461 |
Cold Agglutinin Disease |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:56425 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
Arterial Tortuosity Syndrome |
|
Cardiorespiratory arrest, Aortic root aneurysm, Aortic dissection, Dilated cardiomyopathy, Conges... |
ORPHA:3342 |
Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... |
ORPHA:99103 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension, Respiratory failure |
OMIM:619483 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus |
ORPHA:207 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Elevated circulating hepatic transaminase concentration, Decreased live... |
ORPHA:26791 |
Mirage Syndrome |
|
Intrauterine growth retardation, Petechiae, Hydrocephalus, Intracranial hemorrhage, Hypoplastic s... |
OMIM:617053 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Death in infancy, Stillbirth |
OMIM:241500 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Elevated circulating hepatic transaminase concentration, Pallor, Melena, Oral ... |
ORPHA:98870 |
Hereditary Spherocytosis |
|
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:822 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Hypoplasia of the maxilla |
ORPHA:85279 |
Avian Influenza |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Congestive heart failure, Hyp... |
ORPHA:454836 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
Tetrasomy 5P |
|
Congestive heart failure, Cyanosis, Redundant neck skin, Pulmonary arterial hypertension, Hydroce... |
ORPHA:3309 |
Osteogenesis Imperfecta |
|
Arterial dissection, Aortic regurgitation, Neonatal respiratory distress, Aortic root aneurysm, A... |
ORPHA:666 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... |
OMIM:610921 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration |
OMIM:615234 |
Maxillonasal Dysplasia |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:1248 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... |
ORPHA:231214 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Respiratory insufficiency, Cholestasis, Tricuspid regurgitation, Congestive heart... |
ORPHA:746 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Ventilator dependence with inability to wean, Intrauterine growth retardation, Respiratory failure |
OMIM:604320 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... |
ORPHA:723 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure |
ORPHA:2254 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Hypertrophic cardiomyopathy, Death in childhood, Respiratory insufficie... |
OMIM:220110 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure |
OMIM:606612 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... |
OMIM:265300 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia, Respi... |
OMIM:310200 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Hydrocephalus |
OMIM:613603 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle... |
ORPHA:3304 |
Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... |
ORPHA:324636 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:300676 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Acute Interstitial Pneumonia |
|
Cyanosis, Hypoxemia, Hypertension, Respiratory failure |
ORPHA:79126 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
Propionic Acidemia |
|
Hepatomegaly, Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy |
OMIM:606054 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... |
OMIM:620067 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor |
OMIM:611590 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:614862 |
Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Pulmonary arte... |
ORPHA:99106 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Sp... |
OMIM:225750 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Pulmonary embolism, Dil... |
ORPHA:3260 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Recurrent intrapulmonary hemo... |
ORPHA:183 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla |
OMIM:618737 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, S... |
ORPHA:464329 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Aarskog-Scott Syndrome |
|
Short stature, Hypoplasia of the maxilla, Delayed eruption of teeth, Umbilical hernia |
ORPHA:915 |
Keipert Syndrome |
|
Short stature, Hypoplasia of the maxilla |
ORPHA:2662 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:1529 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... |
ORPHA:99901 |
Elliptocytosis 1 |
|
Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Respiratory in... |
OMIM:618329 |
Pycnodysostosis |
|
Rhizomelia, Carious teeth, Disproportionate short-limb short stature, Hypoplasia of the maxilla, ... |
ORPHA:763 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormality of the liver... |
ORPHA:88618 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Death in childhood |
OMIM:615838 |
High Altitude Pulmonary Edema |
|
Tachycardia, Hypoxemia, Cyanosis |
ORPHA:330012 |
Aspergillosis |
|
Stroke, Intracranial hemorrhage, Hepatitis |
ORPHA:1163 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic root aneurysm, Premature skin wrinkling, Congestive heart failure, ... |
ORPHA:363618 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... |
OMIM:608647 |
Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Splenomegaly, Hepatomegaly, Polyhydramnios |
OMIM:608149 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Skin ulcer, Spontaneous hematomas, Recurr... |
ORPHA:906 |
Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... |
ORPHA:2326 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Pal... |
ORPHA:20 |
Malan Syndrome |
|
Advanced eruption of teeth, Mandibular prognathia, Retrognathia, Hyperplasia of the premaxilla |
OMIM:614753 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Leukopenia, Microg... |
OMIM:216550 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Intrau... |
OMIM:610505 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis |
ORPHA:2004 |
Frontorhiny |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Encephalocele, Basal encephalocele, Hypoplas... |
ORPHA:391474 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Pallor, Death in childhood, Elevat... |
OMIM:246450 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Congestiv... |
ORPHA:99050 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ... |
ORPHA:340 |
Stormorken Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrha... |
OMIM:185070 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Cyanosis, Truncus arteriosus, Coarct... |
ORPHA:3426 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:618804 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Dry skin, Intrauterine grow... |
ORPHA:565 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Bilateral superior vena cava, Abdominal situs inversus, ... |
OMIM:306955 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus |
ORPHA:447788 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Intraventricular hemorrhage, Aortic aneurysm, Ectodermal dysplasia, Hydrocephalus... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Intraventricular hemorrhage, Aortic aneurysm, Ectodermal dysplasia, Hydrocephalus... |
ORPHA:363958 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hydrocephalus, Stillbirth, Hepatomegaly, Respi... |
OMIM:259720 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Myocardial infarction, Peritonitis, Tela... |
ORPHA:679 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:391428 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension, Hypoxemia, Respiratory failure |
ORPHA:36238 |
Tarp Syndrome |
|
Hepatic failure, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Neona... |
OMIM:311900 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Micrognathia, Trismus, Delayed eruption of primary teeth |
OMIM:616367 |
Glycogen Storage Disease Ii |
|
Sinus tachycardia, Respiratory insufficiency, Dilatation of the cerebral artery, Splenomegaly, Wo... |
OMIM:232300 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Pallor |
OMIM:246400 |
Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Micrognathia, Genital edema, P... |
OMIM:616843 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis, Hepatomegaly,... |
ORPHA:348 |
Pde4D Haploinsufficiency Syndrome |
|
Hypoplasia of the maxilla, Abnormal dental enamel morphology, Postnatal growth retardation, Intra... |
ORPHA:439822 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Hepatomegaly, Jaundice, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bun... |
ORPHA:99827 |
Hydranencephaly |
|
Dilatation of the ventricular cavity, Intrauterine growth retardation, Abnormal internal carotid ... |
ORPHA:2177 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Intrauterine growth retardation, Fragile skin, Impaired myocar... |
ORPHA:158687 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... |
ORPHA:199306 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:1540 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Arterioveno... |
ORPHA:394 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla |
ORPHA:90653 |
Carpenter Syndrome 1 |
|
Hypoplasia of the maxilla, Polysplenia, Umbilical hernia, Persistence of primary teeth, Micrognat... |
OMIM:201000 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:241310 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplasia of the maxilla, Disproportionate short-limb short stature, Dental malocclusion, Delaye... |
OMIM:101800 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Pallor, Splenomegaly, Syncope, Hepatomegaly, Tachycardia, Flushing, Urticaria |
ORPHA:98849 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Hypoplasia of the maxilla, Micrognathia, Malar flattening |
ORPHA:79113 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Predominantly lower limb lymphedema, Upper eyelid edema, Hypoplasia of the maxilla |
ORPHA:293939 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Pulmonary arterial hypertension, Respiratory failure, Hypoxemia |
OMIM:610913 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Rhizomelia, Micrognathia, Malar flattening |
OMIM:108721 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy |
OMIM:251000 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Greenberg Dysplasia |
|
Rhizomelia, Hypoplasia of the maxilla, Disproportionate short-limb short stature, Retrognathia, H... |
OMIM:215140 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... |
ORPHA:369929 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia, Birth length less than ... |
OMIM:613804 |
Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
ORPHA:776 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Dilatation of the cerebral ar... |
ORPHA:365 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Recon Progeroid Syndrome |
|
Growth delay, Prominence of the premaxilla, Anemia, Thrombocytopenia, Short stature, Delayed erup... |
OMIM:620370 |
3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Respiratory failure, ... |
ORPHA:445038 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus |
OMIM:123500 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Cyanosis, Death in infancy, Trun... |
OMIM:617478 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly |
OMIM:300908 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure |
ORPHA:2759 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Abnormal pulmonary ... |
ORPHA:199241 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure |
OMIM:603689 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Respiratory insufficiency, Hypertrophic cardiomyopathy, Concentric hypertrophic ... |
OMIM:252010 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Neonatal death, Respiratory arrest, Bradycardia, Jaundice, Respiratory failure,... |
OMIM:617248 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Acrocyanosis, Bradycardia |
OMIM:614407 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Pfeiffer Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus |
OMIM:101600 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Respiratory insufficiency, Oxygen desaturation on exertion, Calcificat... |
ORPHA:60025 |
Orofaciodigital Syndrome Ii |
|
Hypoplasia of the maxilla, Micrognathia, Agenesis of central incisor, Malar flattening, Hydroceph... |
OMIM:252100 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
Eisenmenger Syndrome |
|
Elevated jugular venous pressure, Hepatomegaly, Patent ductus arteriosus, Right ventricular failu... |
ORPHA:97214 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure |
OMIM:618233 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory failure |
OMIM:620166 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Gastrointestinal hemorrhage, Cholestasis, Hepatosplenomega... |
ORPHA:731 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor |
OMIM:609053 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pallor, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Hepatomegaly, T... |
OMIM:277400 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Intrauterine growth retardation, Large placenta, Redundant neck skin, Respirato... |
ORPHA:254528 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... |
OMIM:557000 |
Tay-Sachs Disease |
|
Pallor, Cherry red spot of the macula |
OMIM:272800 |
Meningioma |
|
Syncope, Hydrocephalus, Cerebral hemorrhage |
ORPHA:2495 |
Listeriosis |
|
Arteritis, Congestive heart failure, Cholecystitis, Stroke, Peritonitis, Hepatic granulomatosis, ... |
ORPHA:533 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypotension, Pallor, Hypertension |
ORPHA:134 |
Alg3-Cdg |
|
Cardiomyopathy, Decreased liver function, Neural tube defect, Coarctation of the descending aorti... |
ORPHA:79321 |
Congenital Tracheomalacia |
|
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Respiratory insufficiency, T... |
ORPHA:95430 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Respiratory failure, Patent ductus arteriosus |
OMIM:620327 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
Cone-Rod Dystrophy 8 |
|
Pallor, Retinal arteriolar constriction |
OMIM:605549 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Congenital Myopathy 10B, Mild Variant |
|
Respiratory failure |
OMIM:620249 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Respiratory insufficiency, Absent gallbladder, Hydrocephalus, Heart murm... |
ORPHA:163979 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor |
ORPHA:331206 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla |
OMIM:218000 |
Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... |
ORPHA:2299 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Single coronary artery origin, Tachycardia, Patent ductus ar... |
ORPHA:3384 |
Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension, Respiratory failure |
ORPHA:330021 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Intercostal muscle weakness, Bradycardia, Respiratory failure, Res... |
ORPHA:70 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Tetralogy of Fallo... |
ORPHA:980 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Po... |
OMIM:616749 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Cyanosis, Peritonitis, Bradycardia |
ORPHA:391673 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flattening, Prominen... |
OMIM:170390 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Subcutaneous hemorrhage, Cutis marmorata, Telangiectasia, Angina pect... |
ORPHA:109 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure |
OMIM:617895 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep... |
ORPHA:300298 |
Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Hypoplasia of the maxilla |
OMIM:614261 |
Aregenerative Anemia |
|
Abnormal bleeding, Pallor, Bruising susceptibility |
ORPHA:101096 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Cy... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Cy... |
ORPHA:98914 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Hypoplasia of the maxilla, Cholelithiasis, Micrognathia, Short stature, Mandibular prognathia |
OMIM:300534 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Scedosporiosis |
|
Respiratory failure, Pericarditis |
ORPHA:449280 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:301108 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,... |
ORPHA:79282 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... |
ORPHA:90062 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, Carious teeth, Hepatic failure, Intrauterine growth retardation, Splen... |
ORPHA:1775 |
Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename... |
ORPHA:1798 |
Infantile Krabbe Disease |
|
Respiratory failure, Abnormal heart rate variability, Cherry red spot of the macula |
ORPHA:206436 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Respiratory in... |
OMIM:613658 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Respiratory failure |
OMIM:616538 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure |
ORPHA:98905 |
Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia, Birth length less than ... |
OMIM:613805 |
Von Hippel-Lindau Disease |
|
Cardiomyopathy, Palpitations, Pallor, Stroke, Myocardial infarction, Arrhythmia, Pancreatic islet... |
ORPHA:892 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Short stature, Hypoplasia of the maxilla, Microretrognathia |
ORPHA:1307 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Anemic pallor, Palpitations, Abnormal bleeding |
ORPHA:86839 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... |
OMIM:175780 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia |
ORPHA:228396 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Left ventricular diastolic dysfunction, Aortic regur... |
ORPHA:740 |
Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypertension, Respiratory failure, Respiratory failure requiring ... |
ORPHA:2912 |
Leigh Syndrome |
|
Hepatic failure, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retar... |
ORPHA:506 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
OMIM:167730 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Vascular skin abnormality, Cerebral hemorrhage |
ORPHA:221061 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor, Reduced subcutaneous adipose tissue |
OMIM:606812 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cardiomyopathy, Respiratory insufficiency, Reduced left ventricular ejection fraction, Arrhythmia... |
ORPHA:258 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure |
ORPHA:2707 |
Cockayne Syndrome Type 3 |
|
Vascular calcification, Elevated circulating hepatic transaminase concentration, Aortic root aneu... |
ORPHA:90324 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage |
ORPHA:25 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita... |
ORPHA:99125 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Con... |
ORPHA:14 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Talon cusp, Short stature, Growth delay |
ORPHA:363417 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Umbilical hernia |
ORPHA:2095 |
Marshall Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, Shor... |
ORPHA:560 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bruising susceptibility, Pallor, Splenomegaly, Pulmonary artery stenosis, Pulmonary arterial hype... |
ORPHA:667 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Respiratory insufficiency, Hepatosplenomegaly, Death in childhood, Micro... |
OMIM:618278 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Hereditary Bullous Dystrophy, Macular Type |
|
Heart murmur, Acrocyanosis |
ORPHA:1867 |
Medulloblastoma |
|
Cerebellar hemorrhage, Elevated circulating hepatic transaminase concentration, Hydrocephalus |
ORPHA:616 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Growth delay |
ORPHA:782 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Foam cells |
ORPHA:747 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Flushing |
ORPHA:2131 |
Apert Syndrome |
|
Hydrocephalus, Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth |
ORPHA:87 |
Cohen Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, Mic... |
ORPHA:193 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:245 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Pallor |
OMIM:301310 |
Acrodysostosis |
|
Short stature, Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth |
ORPHA:950 |
Dermatomyositis |
|
Erythema, Vasculitis, Elevated circulating hepatic transaminase concentration, Skin ulcer, V-sign... |
ORPHA:221 |
Poems Syndrome |
|
Splenomegaly, Plethora, Pulmonary arterial hypertension, Respiratory insufficiency due to muscle ... |
ORPHA:2905 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla |
OMIM:619142 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
Arachnoid Cyst |
|
Hydrocephalus, Holoprosencephaly, Encephalocele, Subarachnoid hemorrhage |
ORPHA:2356 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Sclerosing cholangitis |
OMIM:243700 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal aortic arch morphology, Spinal dysraphism, Hypertrophic cardiomyopathy, Hepatosplenomega... |
ORPHA:96334 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:251061 |
Joubert Syndrome 21 |
|
Splenomegaly, Respiratory failure, Occipital encephalocele, Encephalocele |
OMIM:615636 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Andersen-Tawil Syndrome |
|
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Short stature, Abnormality... |
ORPHA:37553 |
Aarskog-Scott Syndrome |
|
Short stature, Hypoplasia of the maxilla, Delayed puberty, Mild short stature |
OMIM:305400 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:496641 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Encephalocele, Hydrocephalus, Polyh... |
ORPHA:2166 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla |
ORPHA:481152 |
Isolated Posterior Meningocele |
|
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
Cerebrofacioarticular Syndrome |
|
Short stature, Hypoplasia of the maxilla, Micrognathia, Lymphedema |
ORPHA:314679 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Treacher-Collins Syndrome |
|
Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zygomatic bone, Retrognathia, Abn... |
ORPHA:861 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hypoplasia of the maxilla, Dental malocclusion, Umbilical hernia, Micrognathia, Hydrocephalus |
OMIM:182212 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Double aortic arch, Patent ductus arteriosus, Heart block, Aortic regurgitation, Thir... |
ORPHA:216694 |
Sheehan Syndrome |
|
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Cyanosis, Decreased liver function, Respiratory failure requiring assisted ventilation |
OMIM:620423 |
Tuberous Sclerosis Complex |
|
Generalized abnormality of skin, Pulmonary lymphangiomyomatosis, Hepatic cysts, Aortic aneurysm, ... |
ORPHA:805 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Advanced eruptio... |
ORPHA:192 |
Adenohypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95512 |
Shprintzen-Goldberg Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Umbilical hernia, Micrognathia, Communicating hydrocephalus |
ORPHA:2462 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Patent urachus, Respiratory failure, Death in childhood |
OMIM:618252 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Cyanosis, Prolonged QT interval, Atrial fibrillatio... |
ORPHA:31826 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Microvesicular hepatic steatosis, Patent ductus arteriosus, Cirrhosis, Elevated... |
OMIM:300868 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Pallor |
ORPHA:91349 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Amyotrophic Lateral Sclerosis |
|
Respiratory failure |
ORPHA:803 |
Panhypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95513 |
Pituitary Apoplexy |
|
Hypertension, Hypotension, Pallor |
ORPHA:95613 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory failure |
ORPHA:209905 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Esophageal Atresia |
|
Tetralogy of Fallot, Coarctation of aorta, Pallor, Cyanosis |
ORPHA:1199 |
Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Short stature, Hypoplasia of... |
ORPHA:50814 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Alobar holoprosence... |
OMIM:610829 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure |
OMIM:617301 |
Van Maldergem Syndrome 1 |
|
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening, Growth delay |
OMIM:601390 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Erythema, Pallor |
OMIM:308300 |
Geroderma Osteodysplasticum |
|
Severe short stature, Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening |
OMIM:231070 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy |
OMIM:618426 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Martsolf Syndrome 1 |
|
Short stature, Hypoplasia of the maxilla, Micrognathia |
OMIM:212720 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
Angelman Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:105830 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:178303 |
Niemann-Pick Disease Type C |
|
Hepatic failure, Respiratory insufficiency, Hepatosplenomegaly, Abnormality of the liver, Splenom... |
ORPHA:646 |
Degcags Syndrome |
|
Premature graying of hair, Cholestasis, Intrauterine growth retardation, Hepatosplenomegaly, Pall... |
OMIM:619488 |
Marshall-Smith Syndrome |
|
Microretrognathia, Retrognathia, Umbilical hernia, Prominence of the premaxilla, Hydrocephalus, S... |
OMIM:602535 |
Bloom Syndrome |
|
Telangiectasia, Intrauterine growth retardation, Cutaneous photosensitivity, Respiratory failure |
ORPHA:125 |
Rapp-Hodgkin Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia, Short stature |
OMIM:129400 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Retrognathia, Micrognathia, Oligohydramnios, Prominence of the premaxilla, Neonatal death, Spina ... |
OMIM:614437 |
Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Intrauterine growth retardation, Micrognathia, Birt... |
OMIM:613803 |
Premature Aging Syndrome, Penttinen Type |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Corneal stromal... |
OMIM:601812 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Intrauterine growth retardation, Pallor, Coarctation of aorta, Spina bi... |
OMIM:105650 |
Prolactinoma |
|
Hypotension, Pallor |
ORPHA:2965 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral re... |
ORPHA:2556 |
Van Maldergem Syndrome 2 |
|
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia, Malar flattening, Growth delay |
OMIM:615546 |
Aicardi Syndrome |
|
Postnatal growth retardation, Hepatoblastoma, Spina bifida, Prominence of the premaxilla |
OMIM:304050 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Severe postnatal growth retardation, Hypoplasia of the maxilla |
ORPHA:2399 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Bruising susceptibility, Anemic pallor, Hydrocephalus, Patent ductus arteriosus |
OMIM:227646 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Abnormal bleeding |
ORPHA:329971 |
Tarp Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Intrauterine growth retardation, Cyanosis |
ORPHA:2886 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Respiratory insufficiency |
OMIM:617239 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Postnatal growth retardation, Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, ... |
ORPHA:79345 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Reduced... |
ORPHA:653 |
Postinfectious Vasculitis |
|
Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis marmorata, Ischemic stroke, Vascular... |
ORPHA:48435 |
Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Poor wound healing, Umbilical... |
ORPHA:287 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si... |
OMIM:613795 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:309520 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615108 |
Double Outlet Left Ventricle |
|
Cyanosis, Abnormal right ventricular function, Pulmonary artery stenosis, Abnormal coronary arter... |
ORPHA:3427 |
Dpagt1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Stroke-like episode, Prolonged QT interv... |
ORPHA:86309 |
Costello Syndrome |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Redundant neck skin, Arrhythmia, Hydrocep... |
OMIM:218040 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, ... |
ORPHA:273 |
Myhre Syndrome |
|
Aortic valve stenosis, Respiratory insufficiency, Intrauterine growth retardation, Patent ductus ... |
OMIM:139210 |
Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
Myasthenia Gravis |
|
Raynaud phenomenon, Acrocyanosis, Hepatitis |
ORPHA:589 |
Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Moyamoya phenomenon, Dry skin, Hepatospl... |
ORPHA:51 |
Cowden Syndrome 1 |
|
Lymphopenia, Hypoplasia of the maxilla, Micrognathia |
OMIM:158350 |
Congenital Fiber-Type Disproportion Myopathy |
|
Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur... |
ORPHA:2020 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Unilateral Polymicrogyria |
|
Stroke, Epistaxis, Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:615109 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypoplasia of the maxilla, Growth delay, Retrognathia, Dental malocclusion, Leu... |
OMIM:180849 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia |
ORPHA:96129 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Cranium bifidum occultum, Hypoplasia of the frontal bone, Aplasia/Hypo... |
ORPHA:306542 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
Congenital Tracheal Stenosis |
|
Neonatal asphyxia, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Pred... |
ORPHA:141127 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor, Bruising susceptibility |
OMIM:227645 |
Neuroblastoma |
|
Hypertension, Anemic pallor, Abnormal bleeding |
ORPHA:635 |
Nelson Syndrome |
|
Striae distensae, Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Abnormal peritoneum morphology, Tachycardia, Acrocyanosis |
ORPHA:1764 |
Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Arterial calcification, Medial calcification of large arteries, Left ventricul... |
ORPHA:51608 |
Myhre Syndrome |
|
Severe short stature, Craniofacial hyperostosis, Hypoplasia of the maxilla, Intrauterine growth r... |
ORPHA:2588 |
Superficial Siderosis |
|
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... |
ORPHA:247245 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth |
OMIM:259600 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypoplasia of the maxilla, Postnatal growth retardation, Micrognathia, Recurrent sinusitis, Polyh... |
OMIM:213980 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Umbilical hernia, Spina bifida, Hydrocephalus, Stillbirth, Dilatation ... |
OMIM:304120 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Hypoplasia of the maxilla, Retrognathia, Intrauterine growth retardation, M... |
ORPHA:2554 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Umbilical hernia |
ORPHA:1101 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Xerostomia, Sinusitis |
ORPHA:238468 |
Osteoglophonic Dysplasia |
|
Severe short stature, Rhizomelia, Hypoplasia of the maxilla, Mandibular prognathia, Eruption fail... |
OMIM:166250 |
Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Micrognathia, Hydrocephalus, Short stature |
ORPHA:1106 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Bruising susceptibility |
OMIM:600901 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Palpitations, Pallor, Supraventricular arrhythmia, Ventric... |
ORPHA:91347 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Bruising susceptibility |
OMIM:227650 |
Viss Syndrome |
|
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... |
OMIM:619472 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Pallor, Pancreatitis, Myocarditis, Hypertension |
ORPHA:544482 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure, Hypercapnia, Respiratory failure requiring assisted ventilation |
ORPHA:79138 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Acrocyanosis, Hypertension, Orthostatic hypotension |
OMIM:223900 |
Primary Hyperoxaluria |
|
Elevated circulating hepatic transaminase concentration, Arterial occlusion, Cardiomyopathy, Cuti... |
ORPHA:416 |
Radio-Renal Syndrome |
|
Respiratory failure |
ORPHA:3015 |
Saethre-Chotzen Syndrome |
|
Short stature, Hypoplasia of the maxilla |
ORPHA:794 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalu... |
OMIM:610828 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Cutis marmorata, Intermittent claudication, Raynaud p... |
OMIM:259900 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Hypoplasia of the maxilla, Proportionate short stature |
OMIM:277600 |
Branchioskeletogenital Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Umbilical hernia, Blepharochalasis, Abnormal dentin mor... |
ORPHA:1299 |
Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Respiratory failure |
ORPHA:647 |
3Mc Syndrome 2 |
|
Postnatal growth retardation, Prominence of the premaxilla |
OMIM:265050 |
Peters-Plus Syndrome |
|
Rhizomelia, Hypoplasia of the maxilla, Disproportionate short-limb short stature, Umbilical herni... |
OMIM:261540 |
Elsahy-Waters Syndrome |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Impacted tooth, Malar ... |
OMIM:211380 |
Meier-Gorlin Syndrome 1 |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia, Birth length less than ... |
OMIM:224690 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Hypoplasia of the maxilla, Umbilical hernia, Proportionate short stature |
OMIM:608328 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Intrauterine growth retardation, Absent gallbladder, Ischemic stroke, ... |
ORPHA:500150 |
Aicardi Syndrome |
|
Hepatoblastoma, Delayed puberty, Prominence of the premaxilla |
ORPHA:50 |
Barber-Say Syndrome |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Mandibul... |
OMIM:209885 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Fragile skin, Respiratory failure, Bradycardia |
ORPHA:79404 |
Diamond-Blackfan Anemia |
|
Coarctation of aorta, Radial artery aplasia, Pallor |
ORPHA:124 |
Nocardiosis |
|
Peritonitis, Respiratory failure, Pericarditis, Liver abscess |
ORPHA:31204 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Semilobar holoprosencephaly, Malar flattening |
OMIM:129900 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Growth delay, Hypoplasia of the zygomatic bone, Umbilical hernia |
ORPHA:920 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, Retrognathia |
OMIM:608156 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cardiorespiratory arrest, Cyanosis, Elevated circulating hepatic transaminase concentration |
ORPHA:293987 |
Goodpasture Syndrome |
|
Pulmonary hemorrhage, Pallor, Cyanosis |
OMIM:233450 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Absent gallbladder, Short stature, Gr... |
OMIM:617140 |
Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla |
OMIM:609460 |
Van Den Ende-Gupta Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening |
OMIM:600920 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia |
OMIM:263650 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hypoplasia of the maxilla, Oligohydramnios, Malar flattening, Short stature, Mandibular prognathia |
OMIM:617402 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla |
OMIM:106260 |
Witteveen-Kolk Syndrome |
|
Intrauterine growth retardation, Branchial fistula, Intracranial hemorrhage |
OMIM:613406 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Hydrocephalus |
OMIM:253280 |
Acrofacial Dysostosis, Cincinnati Type |
|
Hypoplasia of the maxilla, Retrognathia, Intrauterine growth retardation, Micrognathia, Aplastic ... |
OMIM:616462 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Epistaxis, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, ... |
ORPHA:285 |
Saethre-Chotzen Syndrome |
|
Short stature, Hypoplasia of the maxilla, Cleft of chin, Malar flattening |
OMIM:101400 |
Acute Transverse Myelitis |
|
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension |
ORPHA:139417 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Intrauterine growth retardation, Respiratory failure |
ORPHA:2636 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Taurodontia, Hypoplasia of the maxilla |
OMIM:305100 |
Stickler Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Abnormal dental enamel morphology, Micrognathia, Ma... |
ORPHA:828 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Malar flattening |
OMIM:604292 |
Branchiooculofacial Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Branchial anomaly, M... |
OMIM:113620 |
Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Short stature, Supernu... |
OMIM:614188 |
Holoprosencephaly 2 |
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Alobar holoprosencephaly, Semilobar holoprosencephaly, Malar flattening, Aplasia of the premaxill... |
OMIM:157170 |
Coffin-Lowry Syndrome |
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Cutis marmorata, Cutis laxa, Acrocyanosis, Mitral regurgitation |
OMIM:303600 |
Craniofacial Microsomia 1 |
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Hypoplasia of the maxilla, Occipital encephalocele, Micrognathia, Branchial anomaly, Malar flatte... |
OMIM:164210 |
Floating-Harbor Syndrome |
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Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Short stature, Growth delay |
ORPHA:2044 |
Singleton-Merten Syndrome 1 |
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Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Pleural... |
OMIM:182250 |
Ulbright-Hodes Syndrome |
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Respiratory failure, Severe intrauterine growth retardation |
ORPHA:3404 |
Schinzel-Giedion Syndrome |
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Hepatoblastoma, Annular pancreas, Neural tube defect, Umbilical hernia |
ORPHA:798 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Neural tube defect, Abnormal heart rate variability |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Hydrocephalus, Neural tube defect, Abnormal heart rate variability |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Neural tube defect, Abnormal heart rate variability |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Neural tube defect, Abnormal heart rate variability |
ORPHA:93924 |
Pmm2-Cdg |
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Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyo... |
ORPHA:79318 |
Primrose Syndrome |
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Hypoplasia of the maxilla, Increased size of the mandible, Malar flattening, Delayed puberty, Sho... |
OMIM:259050 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla |
OMIM:180500 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |