Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... |
OMIM:615411 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyri... |
OMIM:300067 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, 4-layered lissencephaly, Patent foramen ovale, Wide nasal bridge, M... |
ORPHA:89844 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
OMIM:604213 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent... |
OMIM:600348 |
Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Short stature, Midface retrusion, Abnormality of neuronal migration |
ORPHA:2216 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Congenital Hydrocephalus |
|
Frontal bossing, Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Abnormal heart morpholo... |
ORPHA:2185 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration, Subcutaneous hemorrhage |
ORPHA:1980 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Mandibular prognathia, Micrognathia, Bulbous nose, Simplified gyral pattern, Abnormality of neuro... |
OMIM:604317 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Abnormality of neuronal migration, Decreased calvarial ossification, H... |
ORPHA:2772 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... |
ORPHA:100924 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Ventricular septal defect, Short stature, Patent ductus arteriosus, Bulbous nose... |
OMIM:618330 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79273 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Micrognathia, Prominent nose, Periventricular heterotopia, Partial agenesis of the... |
OMIM:616171 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Depressed nasal bridge, Patent d... |
ORPHA:93274 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalu... |
ORPHA:2655 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
3C Syndrome |
|
Frontal bossing, Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, S... |
ORPHA:7 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Depressed nasal bridge, Micrognathia, Patent ... |
OMIM:618142 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, ... |
OMIM:608840 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Desmosterolosis |
|
Frontal bossing, Severe short stature, Depressed nasal bridge, Abnormal cortical gyration, Microg... |
ORPHA:35107 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Calvarial skul... |
ORPHA:945 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Lissencephaly 6 With Microcephaly |
|
Anteverted nares, Periventricular heterotopia, Bulbous nose, Partial agenesis of the corpus callo... |
OMIM:616212 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Hypopl... |
OMIM:615524 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig... |
OMIM:300049 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Bulbous nose, Hydrocephalus, Simplified gyral patte... |
OMIM:615219 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hydrocephalus, Double outlet rig... |
OMIM:220210 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Ventricular septal defect, Short stature, Depressed nasal bridge, Broad nasal tip, Lon... |
OMIM:619995 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Anemia |
ORPHA:97362 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydrocephalu... |
OMIM:218350 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Brachycephaly, Transposition of ... |
ORPHA:1913 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Frontal bossing, Scapular winging, Tricuspid regurgitation, Ventricular septal... |
OMIM:618870 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79473 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia, Abnormality of neuronal migration |
ORPHA:1314 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... |
ORPHA:370959 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Depressed nasal bridge, Periventricular hetero... |
OMIM:618974 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Abnormality of n... |
ORPHA:1895 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Death in infancy, Subcortical heterotopia, Agyria, Pachygyria, Pa... |
OMIM:614643 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Whipple Disease |
|
Hyponatremia, Splenomegaly, Anemia |
ORPHA:3452 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Lymphopenia |
ORPHA:549 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... |
ORPHA:101030 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Gray matter heterot... |
OMIM:617397 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... |
OMIM:615191 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Cranial asymmetry, Polymicrogyria |
ORPHA:99802 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Anteverted nares, Depressed na... |
ORPHA:261236 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay, Polymicrogyria, Subcortical heterotopia |
OMIM:614483 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Shigellosis |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... |
ORPHA:810 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Periventricular heterot... |
ORPHA:98892 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Vici Syndrome |
|
Death in infancy, Short stature, Depressed nasal tip, Cardiomyopathy, Gray matter heterotopia, Ag... |
ORPHA:1493 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Joubert Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Situs inversus totalis, Hydrocephalus, A... |
ORPHA:475 |
Holoprosencephaly 14 |
|
Frontal bossing, Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephaly... |
OMIM:619895 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Abnormal heart morphology, Gray... |
ORPHA:531151 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Frontal bossing, Craniofacial hyperostosis, S... |
ORPHA:192 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Anteverted nares, Micrognathia, Pachygyria, Wide nasa... |
OMIM:247200 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Pericardial effusion, Hydrocephalus, Plag... |
OMIM:617822 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... |
ORPHA:335 |
Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:79324 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia |
ORPHA:95613 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalu... |
ORPHA:1860 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Trigonocephaly, Mesomelic/rhizomelic limb shortening, M... |
OMIM:605039 |
Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Short stature, Wide nasal bridge, Abnormality of neuronal migration, Dolichocep... |
ORPHA:44 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Anteverted nares, Short stature, Wide nasal bridge, Abnormality of neuronal migration, Biparietal... |
ORPHA:2518 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Abnormal cortical gyration, Spina bifida, Micrognathia, Pachygyria, Tris... |
ORPHA:2671 |
Radio-Tartaglia Syndrome |
|
Frontal bossing, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathi... |
OMIM:619312 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Rhabdomyolysis, Abnormality of neuronal migration, Cardiomyopathy, Myopathy, Arrhy... |
ORPHA:157 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... |
ORPHA:293978 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Cardiomegaly, Bulbous nose, Dilated cardiomyopathy, Increased muscle lipid cont... |
OMIM:608836 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Depressed nasal bridge, Micrognathia, Periventricular heterotopia, Hydrocephalus, ... |
OMIM:619833 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Cerebrofacioarticular Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum, Bilateral cho... |
ORPHA:314679 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Prominent nose, Patent ductus arteriosus, Scaphoceph... |
OMIM:614886 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Tricuspid regurgitation, Depressed nasal bridge, Dextrocardia, Periventricular h... |
OMIM:618929 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Abnormal calvaria morphology, Intrauterine growth retardation, Pachy... |
ORPHA:255138 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Cleft ala nasi, Agenesis of corpus callosum |
OMIM:164180 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:899 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Heart block, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Abno... |
ORPHA:228308 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Disproportionate short... |
OMIM:187600 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Micrognathia, Knee flexion contracture, Gray matter heterotopia, Cam... |
OMIM:619694 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia |
ORPHA:79139 |
Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia |
ORPHA:91355 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Abnormal cortical gyration, Depressed nasal ridge, Brachycephaly, Wi... |
ORPHA:2211 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Bulbous n... |
OMIM:614105 |
Galloway-Mowat Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Aqueductal stenosis, Abnormality of neurona... |
ORPHA:2065 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Short stature, Abnormality of neuronal migration |
ORPHA:2204 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Limb... |
OMIM:207950 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Anteverted nares, Micrognathia, Periventricular heter... |
ORPHA:261250 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Fragile X Syndrome |
|
Mandibular prognathia, Periventricular heterotopia, Mitral valve prolapse |
OMIM:300624 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heterotopia, D... |
OMIM:614887 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Prominent nose, Partial agenesis of the corpus callosum, Flexion contracture, Micro... |
OMIM:210710 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Tetrasomy 18P |
|
Short nose, Syncope, Abnormality of neuronal migration |
ORPHA:3307 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
Opitz-Kaveggia Syndrome |
|
Frontal bossing, Multiple joint contractures, Short stature, Choanal atresia, Micrognathia, Promi... |
OMIM:305450 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Frontal bossing, Short stature, Abnormal cortical gyration, Underdeveloped nas... |
OMIM:311200 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc... |
OMIM:612289 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo... |
ORPHA:534 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Depressed nasal bridge, Congestive heart failure, Rhab... |
ORPHA:26791 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Cystinosis, Nephropathic |
|
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... |
OMIM:219800 |
Holoprosencephaly |
|
Flat occiput, Congenital diaphragmatic hernia, Depressed nasal ridge, Absent nares, Holoprosencep... |
ORPHA:2162 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Short stature, Sudden cardiac death, Congenital diaphragmatic he... |
ORPHA:991 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, Abnormalit... |
ORPHA:2754 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Underdeveloped nasal alae, Wi... |
ORPHA:453499 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Moderate postnatal growth retarda... |
OMIM:118650 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Ventricular septal defect, Short stature, Patent ductus arteriosus, Coron... |
OMIM:620024 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormality of neuronal migration, Plagiocephaly, ... |
ORPHA:2063 |
Man1B1-Cdg |
|
Frontal bossing, Wide nose, Flat occiput, Prominent nose, Periventricular heterotopia, Wide nasal... |
ORPHA:397941 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of neuronal m... |
ORPHA:2318 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Abnormal cortical gyration, Micrognathia, Complete atrioventricular ca... |
OMIM:236680 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Anteverted nares, Periventricular nodular heterotopia, Micrognathia, Postnatal ... |
OMIM:619135 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Prominent nasal bridge, Patent d... |
OMIM:610443 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Patent ductus... |
ORPHA:555877 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Multiple joint contractures, Severe short stature, Camptodactyly of finger, An... |
ORPHA:468631 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, Dental malocclusion, Wide ... |
OMIM:601390 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Vici Syndrome |
|
Wide nose, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Congestive heart f... |
OMIM:242840 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Gray matter... |
OMIM:608624 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Meacham Syndrome |
|
Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl... |
OMIM:608978 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Broad nasal tip, Parietal foramina, Bifid nasal tip, Wide nasal bridge, Brachyceph... |
OMIM:603671 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Ventricular septal defect, Anteverted nares, Micrognathia, Patent ductus arteriosus... |
OMIM:214100 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Congenital Disorder Of Deglycosylation 2 |
|
Micrognathia, Partial agenesis of the corpus callosum, Macroglossia, Gray matter heterotopia, Sho... |
OMIM:619775 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Frontal bossing, Obtuse angle of mandible, Aplasia of the nasal bone, Rhiz... |
ORPHA:93357 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Brachycephaly, Gray matter heterotopia |
OMIM:618797 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... |
OMIM:610828 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis, Craniosynostosis, Un... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis, Craniosynostosis, Un... |
ORPHA:352665 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Abnormality of neuronal migration |
OMIM:300957 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Ankle flexion contractur... |
ORPHA:464311 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Portal hypertension, Hydroceph... |
ORPHA:1454 |
Bilateral Perisylvian Polymicrogyria |
|
Choanal atresia, Weakness of facial musculature, Micrognathia, Flexion contracture, Perisylvian p... |
ORPHA:98889 |
6Q Terminal Deletion Syndrome |
|
Micrognathia, Periventricular heterotopia, Abnormality of neuronal migration, Plagiocephaly, Gray... |
ORPHA:75857 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Trigonocephal... |
OMIM:615948 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Van Maldergem Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, De... |
OMIM:615546 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose, Tetr... |
ORPHA:3186 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Acrania, Micrognathia, Dysplastic corpus callosum, Gray matter heterot... |
OMIM:618820 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Death in infancy, Ventricular septal defect, Short stature, Anteverted nares, ... |
OMIM:270400 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Bulbous nose, Agenesis of corpus callosum, Hydrocephalus, Periventricular heterotopia |
OMIM:618476 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Knee flexion contracture, Wrist flexion contracture, Calf muscle hyp... |
OMIM:618733 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Alg11-Cdg |
|
Gray matter heterotopia, Retrognathia, Limb hypertonia |
ORPHA:280071 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Spina bifida, Postnatal growth retardation, Parti... |
OMIM:304050 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Ventricular septal defect, Prominent nasal... |
OMIM:606170 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Retrognathia, Depressed nasal bridge |
OMIM:617563 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Partial anosmia, Internal hemorrhage, Anosmia, Lower ... |
ORPHA:247245 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Periventricular heterotopia, Patent ductus arterios... |
ORPHA:434179 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Depressed nasal bridge, Short stature, Rhabdomyosarcoma, Prominent nose,... |
ORPHA:647 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... |
OMIM:615287 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma |
OMIM:276300 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Agenesis of corpus callosum, S... |
ORPHA:261552 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage, Cardiac rhabdomyoma |
ORPHA:805 |
Arima Syndrome |
|
Growth delay, Hypertension, Occipital meningocele, Gray matter heterotopia |
OMIM:243910 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Agenesis of corpus callosum, B... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Abnormal pulmonary valve... |
ORPHA:261537 |
Proteus Syndrome |
|
Decreased muscle mass, Anteverted nares, Abnormal dental enamel morphology, Sudden cardiac death,... |
ORPHA:744 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Parachute mitral valve, Prominent nose, Depressed na... |
OMIM:618316 |
Yellow Fever |
|
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... |
ORPHA:99829 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Narrow nasal bridge, Telangiectasia of the skin, Transient ischemic attack, Ab... |
ORPHA:286 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |