Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Inability to walk, Attention deficit hyperactivity disorder |
OMIM:620038 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder |
OMIM:617863 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder |
OMIM:204750 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity |
OMIM:619970 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Abnormal... |
ORPHA:90064 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Dural Sinus Malformation |
|
Hydrocephalus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal ... |
ORPHA:97339 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity |
OMIM:239500 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity |
OMIM:615924 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity |
OMIM:619470 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Ath... |
ORPHA:231160 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity |
OMIM:300983 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Short stature, Pallor, Paroxysmal atrial tachycardia, Ventricular s... |
ORPHA:49827 |
+173470 integrin, beta-3 |
|
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... |
OMIM:173470 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... |
ORPHA:136 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Glycine Encephalopathy |
|
Hyperactivity |
OMIM:605899 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Athetosis |
ORPHA:382 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia |
ORPHA:248111 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Choreoathetosis, Hyperactivity |
OMIM:612716 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Delayed puberty,... |
ORPHA:280679 |
Snakebite Envenomation |
|
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hyp... |
ORPHA:449285 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage |
OMIM:614483 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity |
OMIM:274270 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity |
OMIM:609425 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:90307 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Cerebral h... |
ORPHA:331 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Short stature, Abnormal left ventricle morphology, Moyamoya phenomenon, Dila... |
OMIM:300845 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
Optic Atrophy 11 |
|
Ataxia, Hyperactivity, Dysmetria |
OMIM:617302 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Menkes Disease |
|
Abnormal carotid artery morphology, Intracranial hemorrhage, Dry skin, Arterial stenosis, Vascula... |
ORPHA:565 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Cutis laxa, Short stature |
OMIM:309400 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage |
ORPHA:140989 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Ischemic stroke |
OMIM:182410 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... |
ORPHA:853 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer, ... |
ORPHA:624 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Ataxia, Hyperactivity |
ORPHA:411515 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Unsteady gait |
OMIM:615516 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Phenylketonuria |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:261600 |
Acute Myelomonocytic Leukemia |
|
Pallor, Abnormal bleeding |
ORPHA:517 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Unsteady gait |
OMIM:617865 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Myocardial fibrosis, Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... |
ORPHA:465 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Pyoderma gangrenosum, Prolo... |
ORPHA:49566 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity |
ORPHA:457260 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity |
OMIM:618718 |
Mirage Syndrome |
|
Hydrocephalus, Petechiae, Short stature, Intracranial hemorrhage, Patent ductus arteriosus, Intra... |
OMIM:617053 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... |
ORPHA:3099 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia |
ORPHA:276608 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Short s... |
ORPHA:536545 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Growth delay |
OMIM:615234 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral... |
ORPHA:90065 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia |
OMIM:617397 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... |
OMIM:613795 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Cln5 Disease |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Hyperactivity |
ORPHA:3077 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... |
OMIM:177850 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... |
ORPHA:464321 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic atherosclerotic lesion, Mitral regurgitation, Mitral valve calcific... |
ORPHA:363618 |
Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Gastroin... |
ORPHA:99828 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Short stature, Pallor, Ventricular septal defect, Patent foramen ovale, Int... |
OMIM:609053 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... |
ORPHA:369929 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Pericarditis, Hydrocephalus, Congestive heart failure |
ORPHA:163596 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Neonatal death |
ORPHA:85212 |
Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
Hypophosphatasia, Infantile |
|
Disproportionate short-limb short stature, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... |
ORPHA:494424 |
Evans Syndrome |
|
Petechiae, Bruising susceptibility, Pallor, Syncope, Epistaxis |
ORPHA:1959 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619827 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Growth delay, Short stature |
OMIM:615631 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity |
OMIM:618314 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Gait ataxia |
ORPHA:500180 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:774 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Short stature |
OMIM:606054 |
Beta-Thalassemia |
|
Skin ulcer, Hypertrophic cardiomyopathy, Pallor |
ORPHA:848 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... |
ORPHA:251274 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Cerebral hemorrhage, Cutis laxa, Bruising susceptibility, Short stature, Arterial ... |
ORPHA:666 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Leishmaniasis |
|
Skin ulcer, Abnormal bleeding, Pallor |
ORPHA:507 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur |
ORPHA:99931 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke |
ORPHA:1163 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... |
ORPHA:324636 |
Rare Circulatory System Disease |
|
Intermittent claudication, Arterial calcification, Pallor, Arterial tortuosity, Abnormal systemic... |
ORPHA:98028 |
Primary Myelofibrosis |
|
Petechiae, Pallor, Abnormal bleeding, Purpura, Ecchymosis, Portal hypertension |
ORPHA:824 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Delayed puberty |
OMIM:600462 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Atrial septal defect, Short stature, Intracranial hemorrhage, Heart murmur, Ventri... |
ORPHA:163979 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus |
ORPHA:447788 |
American Trypanosomiasis |
|
Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure |
ORPHA:3386 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Short stature, Intracranial... |
ORPHA:109 |
Tempi Syndrome |
|
Facial erythema, Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Subarachnoid hemorrhage, Holoprosencephaly |
ORPHA:2356 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
Viss Syndrome |
|
Tortuous cerebral arteries, Pulmonary artery aneurysm, Aortic tortuosity, Ventricular septal defe... |
OMIM:619472 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Kaposiform Lymphangiomatosis |
|
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... |
ORPHA:464329 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... |
ORPHA:906 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia |
OMIM:263300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Abnormal bleeding, Congestive heart failure |
ORPHA:75564 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Waldenström Macroglobulinemia |
|
Stroke, Pallor, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, Gastrointestinal hemo... |
ORPHA:33226 |
Erythrocytosis, Familial, 2 |
|
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Short stature |
OMIM:611590 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Post-partum hemorrhage, Short stature, Pallor, Oral cavity bleeding, Gingival bleeding |
ORPHA:98870 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Cerebral vasculitis, Growth delay, Subarachnoid hemorrhage |
OMIM:243700 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... |
ORPHA:99901 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Stroke, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, Growth de... |
ORPHA:79282 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Hypertension |
OMIM:133100 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity |
OMIM:610042 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Abnormal mitral valve morphology, Stroke, Lack of skin elasticity, Myocardial in... |
ORPHA:740 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hydrocephal... |
ORPHA:137675 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Autoimmune Hemolytic Anemia |
|
Pallor, Arrhythmia, Congestive heart failure |
ORPHA:98375 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Tachycardia, Congestive heart failure |
ORPHA:90037 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Intraventricular h... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Intraventricular h... |
ORPHA:363958 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... |
ORPHA:340 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Pallor, Intracranial hem... |
ORPHA:3260 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor, Tachycardia |
ORPHA:263455 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... |
ORPHA:79284 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... |
ORPHA:231226 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Tachycardia |
ORPHA:90036 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:231625 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia, Cardiomegaly |
OMIM:608836 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Sepsis In Premature Infants |
|
Petechiae, Pallor, Abnormal bleeding, Tachycardia, Hypotension, Purpura, Bradycardia |
ORPHA:90051 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor, Intrauterine growth retardation |
OMIM:266200 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:43 |
Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Mild postnatal growth ret... |
ORPHA:90324 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Skin ulcer, Pallor, Growth delay |
ORPHA:822 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Tachycardia, Congestive heart failure |
ORPHA:90033 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... |
ORPHA:231214 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Growth delay, Short stature |
OMIM:617675 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Intrauterine growth retardation, Prolonged prothromb... |
OMIM:619055 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... |
ORPHA:99125 |
Classic Homocystinuria |
|
Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism,... |
ORPHA:394 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage, Communicating hydrocephalus |
ORPHA:25 |
Tay-Sachs Disease |
|
Pallor, Cherry red spot of the macula |
OMIM:272800 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure |
ORPHA:231222 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity |
OMIM:620047 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor, Tachycardia |
ORPHA:348 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
Senior-Loken Syndrome 8 |
|
Pallor, Vascular dilatation |
OMIM:616307 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Short stature, Tricuspid stenosis, Pallor, Coarctation of aorta, Ventricula... |
OMIM:105650 |
Cone-Rod Dystrophy 8 |
|
Pallor, Retinal arteriolar constriction |
OMIM:605549 |
Hydranencephaly |
|
Postnatal growth retardation, Abnormal internal carotid artery morphology, Abnormal cerebral arte... |
ORPHA:2177 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Hypotension, Dilated cardiomyopathy, Cardiac arrest, Prolonged prothrombin time |
ORPHA:20 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Bruising susceptibility, Short stature, Anemic pallor, Patent ductus arteriosus, A... |
OMIM:227646 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele |
ORPHA:268810 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage, Short stature |
ORPHA:90795 |
Degcags Syndrome |
|
Atrial septal defect, Dysplastic pulmonary valve, Pulmonic stenosis, Pallor, Tachycardia, Ventric... |
OMIM:619488 |
Beta-Ketothiolase Deficiency |
|
Pallor, Hypertension, Hypotension |
ORPHA:134 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Aregenerative Anemia |
|
Pallor, Abnormal bleeding, Bruising susceptibility |
ORPHA:101096 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Imerslund-Gräsbeck Syndrome |
|
Pallor, Abnormal bleeding, Tachycardia |
ORPHA:35858 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Bruising susceptibility, Pallor, Growth delay... |
ORPHA:667 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Sheehan Syndrome |
|
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Bradycardia |
ORPHA:91355 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy |
ORPHA:2131 |
Acute Liver Failure |
|
Hepatocellular necrosis, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hyp... |
ORPHA:90062 |
Witteveen-Kolk Syndrome |
|
Short stature, Branchial fistula, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... |
OMIM:613406 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Anemic pallor, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Riddle Syndrome |
|
Short stature, Intraventricular hemorrhage, Conjunctival telangiectasia, Erythema, Scaling skin, ... |
ORPHA:420741 |
Medulloblastoma |
|
Hydrocephalus, Cerebellar hemorrhage |
ORPHA:616 |
Pituitary Apoplexy |
|
Pallor, Hypertension, Hypotension |
ORPHA:95613 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Short stature, Anemic pallor, Ventricular septal defect, Intrauterine gr... |
OMIM:227645 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor, Growth delay |
ORPHA:300298 |
Esophageal Atresia |
|
Pallor, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Growth delay |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... |
ORPHA:91347 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
Blackfan-Diamond Anemia |
|
Atrial septal defect, Short stature, Pallor, Radial artery aplasia, Coarctation of aorta, Ventric... |
ORPHA:124 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Stroke, Pallor, Palpitations, Arrhythmia, Myocarditis, Myocar... |
ORPHA:892 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage, Short stature |
OMIM:308300 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Gait ataxia, Hyperactivity, Dysmetria |
OMIM:610217 |
Adenohypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95512 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage, Short stature |
OMIM:619714 |
Panhypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95513 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Bruising susceptibility, Abnormal heart morphology |
OMIM:600901 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Bruising susceptibility, Abnormal heart morphology |
OMIM:227650 |
Hellp Syndrome |
|
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Nelson Syndrome |
|
Hypertension, Intracranial hemorrhage, Striae distensae |
ORPHA:199244 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Superficial Siderosis |
|
Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr... |
ORPHA:247245 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Argininemia |
|
Spastic gait, Hyperactivity |
OMIM:207800 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Growth delay, Anemic pallor, Hematochezia |
ORPHA:329971 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Meningioma |
|
Hydrocephalus, Cerebral hemorrhage, Syncope |
ORPHA:2495 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Hypertension, Myocarditis, Hypertensive crisis |
ORPHA:544482 |
Pearson Marrow-Pancreas Syndrome |
|
Pallor, Erythema |
OMIM:557000 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Hypertension associated with pheochromocytoma, Palpitations, Hypertensive crisis |
ORPHA:653 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension |
ORPHA:139417 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, Retinal hemorrhage, Retinal arter... |
OMIM:175780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Hydrocephalus |
OMIM:253280 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Venous malformation |
ORPHA:221061 |
Semilobar Holoprosencephaly |
|
Growth delay, Hydrocephalus, Neural tube defect, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Hydrocephalus, Neural tube defect, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Hydrocephalus, Neural tube defect, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Hydrocephalus, Neural tube defect, Short stature |
ORPHA:93924 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
Pmm2-Cdg |
|
Angina pectoris, Intracranial hemorrhage, Pericarditis, Hypertrophic cardiomyopathy, Pericardial ... |
ORPHA:79318 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Ataxia |
OMIM:612020 |
Laurence-Moon Syndrome |
|
Ataxia |
OMIM:245800 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Gait ataxia |
OMIM:215470 |
Laurence-Moon Syndrome |
|
Ataxia |
ORPHA:2377 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Ataxia |
ORPHA:1173 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Gait ataxia |
ORPHA:139480 |
Oliver-Mcfarlane Syndrome |
|
Severe short stature, Delayed puberty |
OMIM:275400 |