Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy |
ORPHA:482 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anem... |
ORPHA:100025 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... |
ORPHA:543 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Hyperactivity, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive be... |
OMIM:604317 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
ORPHA:99976 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis, Oral ulcer |
OMIM:618287 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hypogonadism, Diabetes... |
ORPHA:79230 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia, Delayed so... |
OMIM:618677 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Variant Abeta2M Amyloidosis |
|
Abnormality of the tongue, Hepatic amyloidosis, Abnormal salivary gland morphology, Gastrointesti... |
ORPHA:314652 |
Juvenile Huntington Disease |
|
Ataxia, Cerebellar vermis atrophy, Hyperactivity, Progressive cerebellar ataxia, Depression, Chor... |
ORPHA:248111 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Lissencephaly 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band heterotop... |
OMIM:607432 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Bi... |
OMIM:615710 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Failure to thrive, Periventricular heterotopia, Poor eye contact, Periventricular nodular heterot... |
OMIM:608097 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Depression, Men... |
OMIM:605361 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia, Depression, Memory impairment, Cerebellar atrophy, Dementia |
OMIM:604121 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Axial dystonia, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochok... |
OMIM:604326 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ataxia, Hyperactivity, Cerebellar atrophy |
OMIM:613402 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Developmental And Epileptic Encephalopathy 44 |
|
Failure to thrive, Poor eye contact, Athetosis, Cerebellar atrophy, Dystonia, Irritability |
OMIM:617132 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simplified gyral ... |
ORPHA:1083 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Cerebellar vermis atrophy, Poor eye contact, Hyperactivity, Progressive language deterior... |
ORPHA:163681 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Igg4-Related Submandibular Gland Disease |
|
Sialadenitis, Abnormal pancreas morphology, Eosinophilia, Xerostomia, Abnormal salivary gland mor... |
ORPHA:449432 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... |
ORPHA:97290 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Lissencephaly 3 |
|
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissenceph... |
OMIM:611603 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... |
ORPHA:319487 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... |
OMIM:603552 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Cachexia, Mental deterioration, Anxiety, Chorea, Tremor, Gait atax... |
OMIM:618093 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... |
OMIM:243150 |
Refractory Celiac Disease |
|
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proport... |
ORPHA:398063 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Poor eye contact, Anxiety, Tremor, Dystonia |
OMIM:619651 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Ataxia, Poor eye contact, Aplasia/Hypoplasia of the cerebellar vermis, Intention tremor, Partial ... |
ORPHA:137831 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... |
ORPHA:79493 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126840 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... |
ORPHA:424019 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Poor eye contact, Tremor, Aggressive behavior |
OMIM:300983 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Fat malabsorption, Steatorrhea |
OMIM:614338 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Poor eye contact, Cerebellar atrophy, Dystonia, Irritability |
OMIM:618237 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Action tremor, Depression, Anxiety, Chorea, Tremor, Aggressive behavior, Cerebellar atrop... |
OMIM:619738 |
Niemann-Pick Disease Type C |
|
Narcolepsy, Ataxia, Cerebellar vermis atrophy, Abnormal social behavior, Mental deterioration, Ch... |
ORPHA:646 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Lymphadenopathy, Inflammation of the large intestine, Abnormality of the ... |
ORPHA:26790 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... |
ORPHA:444002 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Ataxia, Resting tremor, Depression, Mental deterioration, Head tremor, Memory impairm... |
ORPHA:314404 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... |
ORPHA:848 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia, Polysplenia |
OMIM:619608 |
Dopa-Responsive Dystonia |
|
Arm dystonia, Agoraphobia, Leg dystonia, Abnormal social behavior, Depression, Oculogyric crisis,... |
ORPHA:255 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Oral cleft, Esophageal atresia |
ORPHA:1305 |
Al Amyloidosis |
|
Hepatomegaly, Macroglossia, Increased circulating NT-proBNP concentration, Xerostomia, Abnormalit... |
ORPHA:85443 |
Developmental And Epileptic Encephalopathy 98 |
|
Attention deficit hyperactivity disorder, Perisylvian polymicrogyria, Poor eye contact, Cerebella... |
OMIM:619605 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadocho... |
ORPHA:208513 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... |
ORPHA:2070 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Small for gestational age, Depression, Anxiety, Increased body ma... |
OMIM:300957 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Tes... |
ORPHA:83469 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity, Cerebellar hypoplasia |
ORPHA:521258 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Cyclic Neutropenia |
|
Periodontitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenopathy, Perit... |
ORPHA:2686 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadeni... |
OMIM:618935 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Failure to thrive, Ataxia, Cognitive impairment |
ORPHA:1314 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Abnormality of upper lip, Open m... |
ORPHA:2849 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Hyperactivity, Tremor, Aggressive behavior, Simplified gyral pattern |
OMIM:619470 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Cerebellar vermis atrophy, Poor eye contact, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abnormal circulating polysaccharide concentration, Protein-losing enteropathy, Hypo... |
ORPHA:103910 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... |
OMIM:608184 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Hypocalcemia, Euthyroid goiter, Nodular goiter,... |
ORPHA:64744 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Leukopenia, Abnormal macrophage morp... |
ORPHA:507 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Low ... |
ORPHA:95427 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Polysplenia, Decreased response to growth hormone stimulation test |
OMIM:617784 |
Muir-Torre Syndrome |
|
Neoplasm of the liver, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer, Neoplasm of the s... |
ORPHA:587 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior, Cerebellar atrophy |
OMIM:271980 |
Unilateral Focal Polymicrogyria |
|
Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment, Attention def... |
ORPHA:268947 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Cirrhosis, Villous atrophy, Protein-losing enteropathy, Hepatic fibros... |
OMIM:602579 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Cirrhosis, Hyp... |
OMIM:607765 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Iron deficiency anemia, Decreased serum thromboxane B2, Esophageal ulceration, De... |
OMIM:618372 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Gamma-Heavy Chain Disease |
|
Abnormal palate morphology, Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Thro... |
ORPHA:100026 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior |
ORPHA:101039 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Protein-losing enteropathy |
OMIM:619063 |
Melioidosis |
|
Splenic abscess, Abnormality of the spleen, Liver abscess, Hepatitis, Abnormal parotid gland morp... |
ORPHA:31202 |
Cln5 Disease |
|
Ataxia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Anxiety, Truncal atax... |
ORPHA:228360 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
OMIM:613011 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Hypoplasia of the pons... |
ORPHA:300573 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... |
OMIM:609425 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Dysmetria, Hyperactivity, Cerebellar atrophy |
OMIM:618090 |
Autism |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608636 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
Microhydranencephaly |
|
Poor eye contact, Self-mutilation, Cerebellar hypoplasia, Athetosis, Pachygyria, Hydranencephaly |
OMIM:605013 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Fat malabsorption, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Recurrent infection of the gastrointestinal tract |
OMIM:605258 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Bile duct prol... |
ORPHA:79302 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased prop... |
OMIM:615559 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity, Cerebellar hypoplasia |
OMIM:300979 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Recurrent apht... |
OMIM:611762 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular v... |
ORPHA:231222 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the liver, Abnormal parotid g... |
ORPHA:252164 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Colitis, Lymphopenia, Enterocolitis, Hemophagocytos... |
OMIM:619802 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Fat malabso... |
OMIM:211600 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstr... |
OMIM:300048 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia |
OMIM:613502 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Cerebellar vermis atrophy, Hyperactivity, Polymicrogyria, Tremor, Gait ataxia,... |
OMIM:300354 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ... |
OMIM:619750 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Ileal ulcer, Hemolytic anemia, Oral ulcer, Thrombocytopenia |
OMIM:616744 |
Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... |
OMIM:603554 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:300067 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Poor eye contact, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Aggr... |
OMIM:103050 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Villous atrophy, Lymphopenia, Abnormal intestine morphology |
OMIM:614162 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Colitis, Recurrent infection of the gastrointestinal tract, Lymphocytosis, Abnormality of the lym... |
ORPHA:911 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... |
OMIM:614034 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Lymphocyti... |
OMIM:616100 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... |
OMIM:617718 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O... |
ORPHA:352682 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Overweight, Shyness, Cerebellar atrophy |
ORPHA:280763 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Anemia, Abnormal... |
ORPHA:90362 |
Congenital Short Bowel Syndrome |
|
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... |
OMIM:615237 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Abnormal salivary gland morphology, Thrombocytopenia, Abnormality of the submandibula... |
ORPHA:79078 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Reduced C-peptide l... |
OMIM:260370 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar ... |
OMIM:613153 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... |
OMIM:612840 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions |
OMIM:619445 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Hematochezia, Glossitis, Pr... |
OMIM:175500 |
Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Eosi... |
ORPHA:449563 |
Castleman Disease |
|
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Follicu... |
ORPHA:160 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Self-injurious behavior, Chorea, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Aggressive Systemic Mastocytosis |
|
Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thro... |
ORPHA:98850 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Thrombocytopeni... |
ORPHA:381 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... |
OMIM:616531 |
Ck Syndrome |
|
Slender build, Hyperactivity, Polymicrogyria, Aggressive behavior, Pachygyria, Irritability |
ORPHA:251383 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... |
ORPHA:210122 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Intrahepatic cholestasis, Fat malabsorpti... |
OMIM:214950 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastroesophageal reflux, Hepatomegaly, Abnormality of the lymph nodes, Anemia, Decreased circulat... |
ORPHA:85450 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity, Aggressive behavior, Cerebellar atrophy |
ORPHA:369939 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Cerebellar vermis hypoplasia, Subc... |
OMIM:615191 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Dilated fourth ventricle, I... |
ORPHA:370022 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavio... |
ORPHA:3077 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Feingold Syndrome 1 |
|
High palate, Annular pancreas, Duodenal atresia, Everted lower lip vermilion, Tracheoesophageal f... |
OMIM:164280 |
Alg6-Cdg |
|
Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropathy, Hypoalbuminemi... |
ORPHA:79320 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Impaired social interactions, No social interaction, Aggressive behavior |
ORPHA:329249 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pancreatic c... |
OMIM:167800 |
Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Rhombencephalos... |
OMIM:601853 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... |
OMIM:308240 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar cyst, Gray matter heterotopia, Cerebellar atrophy, Pachygyria |
ORPHA:370980 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Ex... |
ORPHA:1333 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Hsd10 Disease |
|
Tremor, Ataxia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... |
ORPHA:231214 |
Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Pancreatic fibrosis, Cirrhosis, Hyperechogeni... |
OMIM:208540 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Ck Syndrome |
|
Slender build, Hyperactivity, Polymicrogyria, Aggressive behavior, Pachygyria, Irritability |
OMIM:300831 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m... |
ORPHA:945 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia |
OMIM:615924 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Hepatic fibrosis, ... |
OMIM:246200 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Protein-losing enteropathy, Portal hypertension, Hypoalbuminemia,... |
ORPHA:79319 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Ne... |
OMIM:150550 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... |
ORPHA:2298 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Inflammation of the large intestine, Abn... |
OMIM:181000 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentration, Abnormality o... |
ORPHA:50918 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... |
ORPHA:158061 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Personality disorder, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, H... |
OMIM:235255 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Long philtrum, Cholestasis, Elevated circulating creatinine concent... |
OMIM:608104 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2216 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Hiatus hernia, Persistence of primary teeth, Persistence of hemoglobin F... |
OMIM:619769 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... |
OMIM:607115 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Malabsorption, Neutropenia, Sideroblastic anemia, Exocrine pancreatic insuffi... |
OMIM:557000 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Impulsivity, Depression, Polymicrogyria, Chorea, Dystonia |
ORPHA:88616 |
Congenital Contractural Arachnodactyly |
|
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation |
ORPHA:115 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... |
OMIM:267700 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Impulsivity, Hyperactivity, Cerebellar gliosis, Mental deterioration, Psychomotor deterio... |
ORPHA:35069 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Pleural Mesothelioma |
|
Dysphagia, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Fragile X Syndrome |
|
Periventricular heterotopia, Hyperactivity, Poor eye contact, Self-biting |
OMIM:300624 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Self-mutilation, Depression, Anxiety, Tremor, Cerebellar dysplasia, Overweight |
ORPHA:457240 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Cholestatic liver disease, H... |
ORPHA:540 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice |
ORPHA:858 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia |
OMIM:612716 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Oral ulcer, Pa... |
OMIM:615122 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Plasminogen Deficiency, Type I |
|
Gingival overgrowth, Periodontitis, Duodenal ulcer, Gingivitis, Decreased level of plasminogen |
OMIM:217090 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... |
ORPHA:79477 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Impulsivity, Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis... |
OMIM:610217 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Eosinophilia, ... |
ORPHA:449395 |
Lig4 Syndrome |
|
Malabsorption, Hepatomegaly, Leukocytosis, Thin vermilion border, Pancytopenia, Cryptorchidism, L... |
ORPHA:99812 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... |
OMIM:615895 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Agranulocytosi... |
OMIM:301078 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Luscan-Lumish Syndrome |
|
Anxiety, Shyness, Chiari malformation, Aggressive behavior, Obesity |
OMIM:616831 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Fryns Syndrome |
|
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Wide mouth, C... |
ORPHA:2059 |
Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Lymphadenopathy, Ovarian neoplasm, Macroglossia |
ORPHA:2221 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Lymphadenopathy, Abnorm... |
ORPHA:1332 |
Colonic Atresia |
|
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... |
ORPHA:1198 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Re... |
ORPHA:424016 |
Stromme Syndrome |
|
Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Accessory spleen, Jejunal atr... |
OMIM:243605 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Lack of peer relationships, Tremor, Atte... |
ORPHA:1942 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis... |
ORPHA:79303 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Progressive language deterioration, Aggressive behavior, Impaired social i... |
OMIM:610042 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Hyperactivity, Mental deterioration, Anxiety, Motor deterioration, Aggressive behavior, C... |
ORPHA:168491 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Chylomicron Retention Disease |
|
Steatorrhea, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Fat ma... |
ORPHA:71 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Vil... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of the large intestine, B lympho... |
OMIM:614700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Type II lissencepha... |
OMIM:615181 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Increased mean corpuscular volume, Cleft palate, Persistence of hemoglobin F, Bi... |
OMIM:612561 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Poor eye contact, Cerebellar hypoplasia, Irritability |
OMIM:615182 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Oligodontia, Protein-losing enteropathy, ... |
OMIM:618440 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Tracheoesophageal fistula, Dysphagia, Goiter, Lymphadenopathy |
ORPHA:142 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... |
ORPHA:277 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice |
ORPHA:99978 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intention tremor, Me... |
ORPHA:309271 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly... |
ORPHA:1655 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Decreased proportion of naive T cells, Colitis, Gastritis, Elevated circulating ... |
OMIM:619381 |
Fanconi Anemia, Complementation Group F |
|
Duodenal atresia, Decreased response to growth hormone stimulation test, Cryptorchidism, Leukopen... |
OMIM:603467 |
Hypoplasminogenemia |
|
Gingival overgrowth, Periodontitis, Duodenal ulcer, Gingivitis, Decreased level of plasminogen, A... |
ORPHA:722 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia |
OMIM:608840 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Poor eye contact, Hyperactivity, Depression, Anxiety, Attention deficit ... |
ORPHA:449291 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancrea... |
OMIM:617941 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Pancreatic calcification, Jaundice, Abnormality of the... |
ORPHA:677 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability, Simplified gyral pattern, Enlarged cerebellum |
OMIM:620047 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia |
ORPHA:79327 |
Chronic Granulomatous Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Mediastinal lymphadenopathy... |
ORPHA:379 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Ataxia, Hyperactivity, Obesity, Inappropriate laughter |
ORPHA:411515 |
Optic Atrophy 11 |
|
Ataxia, Hyperactivity, Cerebellar hypoplasia, Dysmetria |
OMIM:617302 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Amelogenesis imperfecta, Thrombocytopenia |
OMIM:612783 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Hyperactivity, Progressive cerebellar ataxia, Depression, Anxiety, Chore... |
ORPHA:485350 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Gray matter heterotopia, Cerebellar atr... |
OMIM:617622 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Intestinal obstruction, Recurrent aphthous stomatitis, Gastrointestina... |
ORPHA:343 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Aceruloplasminemia, H... |
ORPHA:48818 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simplified gyral ... |
OMIM:616212 |
Thyroid Lymphoma |
|
Dysphagia, Goiter, Lymphadenopathy |
ORPHA:97285 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Chorea, Gait ataxia, Aggressive behavior, Impaired pain sensation, Dy... |
ORPHA:500180 |
Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior |
OMIM:300978 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
U-Shaped upper lip vermilion, Abnormal hemoglobin, Gastroesophageal reflux, Macroglossia, Everted... |
ORPHA:847 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... |
OMIM:603553 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Microform Holoprosencephaly |
|
Duodenal atresia, Cleft palate, Short philtrum, Panhypopituitarism, Oral cleft, Solitary median m... |
ORPHA:280200 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attention deficit hyperacti... |
ORPHA:1929 |
47,Xyy Syndrome |
|
Hydrocephalus, Impulsivity, Hyperactivity, Dysgenesis of the cerebellar vermis, Attention deficit... |
ORPHA:8 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... |
ORPHA:103918 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Supernumerary nipple, Macroglossia, Reduced alpha/beta synthesis ratio, Long philtru... |
OMIM:141750 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Young-Onset Parkinson Disease |
|
Apathy, Impulsivity, Cognitive impairment, Depression, Anxiety, Panic attack, Frontal lobe dement... |
ORPHA:2828 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Cerebellar atrophy |
ORPHA:89844 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, Progressive ga... |
ORPHA:309263 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar ... |
ORPHA:101070 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Delayed eruption o... |
ORPHA:811 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression, Anxiety, Low self esteem, Attention deficit hyperactivity d... |
ORPHA:64280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Retrocerebellar cyst, Self-mutilation, Cerebellar hypoplasia, Cerebellar vermis hy... |
OMIM:300486 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Achalasia, Lymphadenopathy, Aganglionic megacolon |
ORPHA:3386 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Long philtrum, Downturned corners of mouth, Thin upper ... |
OMIM:616651 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Self-injurious behavior, Depression, Aggressive behavior, Emotional lability, Obesity... |
ORPHA:293987 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Duodenal stenosis |
ORPHA:1759 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia |
ORPHA:1020 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Tracheoesophageal fistula, Aplastic anemia, Thrombocytopenia, Esophageal atresia |
OMIM:300514 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron, Villous atrophy |
OMIM:614602 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter |
OMIM:618718 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Malrotation of small bowel, ... |
OMIM:601095 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Duodenal ulcer, Steatorrhea |
ORPHA:3217 |
Periventricular Nodular Heterotopia 1 |
|