Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
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 |
|
Diabetes mellitus, Type I 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 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
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 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal 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 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... |
ORPHA:100025 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Carcinoma Of Esophagus |
|
Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... |
ORPHA:70482 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... |
OMIM:618495 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Shyness |
OMIM:618221 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Aggressive behavior, Simplified gyral pattern, Hyperactivity, ... |
OMIM:604317 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
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 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology, Hyponatremia |
ORPHA:3225 |
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 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma |
ORPHA:99976 |
Mucocutaneous Ulceration, Chronic |
|
Oral ulcer, Ileitis |
OMIM:618287 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Hemochromatosis Type 2 |
|
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Diabetes mellitus, Hyp... |
ORPHA:79230 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Cerebellar atrophy, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progres... |
ORPHA:248111 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Delayed social development, Hypoplasia of the pons, Periventricular ribbonlike heterotopia, Cereb... |
OMIM:618677 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Gastrointestinal infarctions, Intestinal perforation, Abnorma... |
ORPHA:314652 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... |
OMIM:615710 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Cerebellar hypoplasia, Gray matter heterotopia,... |
OMIM:607432 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... |
OMIM:613101 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... |
OMIM:601346 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Spinocerebellar Ataxia 12 |
|
Dementia, Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadoc... |
OMIM:604326 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Protein-losing enteropathy |
OMIM:615863 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Failure to thrive, Poor eye contact, Periventricular heterot... |
OMIM:608097 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia |
OMIM:608971 |
Pfapa Syndrome |
|
Abnormal oral cavity morphology, Hepatomegaly, Lymphadenopathy, Malabsorption, Splenomegaly |
ORPHA:42642 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer |
OMIM:618852 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Lissencephaly 3 |
|
Ataxia, Cerebellar vermis hypoplasia, Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia... |
OMIM:611603 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental d... |
OMIM:618093 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Microlissencephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrog... |
ORPHA:1083 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Falls, Shuffli... |
ORPHA:412066 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis |
OMIM:619164 |
Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Co... |
ORPHA:97290 |
Dopa-Responsive Dystonia |
|
Dystonia, Gait disturbance, Arm dystonia, Panic attack, Agoraphobia, Fatigable weakness, Tremor, ... |
ORPHA:255 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Skin-picking, Abnormal neuron morphology, Aggressive behavior,... |
ORPHA:163681 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia |
OMIM:604213 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Cholangitis, Xerostomia, Abnormal pancreas morphology, Retrop... |
ORPHA:449432 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Co... |
ORPHA:319487 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
OMIM:603552 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Dementia, Cerebellar atrophy, Narcolepsy, Ataxia, Depression, Memory impairment |
OMIM:604121 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Refractory Celiac Disease |
|
Jejunitis, Hypoproteinemia, Macrocytic anemia, Villous atrophy, Normocytic anemia, Iron deficienc... |
ORPHA:398063 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional l... |
ORPHA:71517 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Partial absence of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Poor eye conta... |
ORPHA:137831 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hypoalbuminemia, Pr... |
OMIM:602579 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... |
ORPHA:79493 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... |
ORPHA:424019 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Elevated carcinoembryonic antigen level, Chronic noninfectious lymphad... |
ORPHA:100083 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia |
OMIM:300983 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:616531 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Steatorrhea, Fat malabsorption |
OMIM:614338 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Delayed social development, Cognitive impairment, Intention tremor... |
ORPHA:208513 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Intestinal obstruction, Inflammation of the large intestine, Abnormality of the ... |
ORPHA:26790 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gait disturbance, Small for gestational age, Increased body ma... |
OMIM:300957 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity dis... |
ORPHA:444002 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... |
ORPHA:54251 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Impaired social interactions, Mental deteriorati... |
ORPHA:168782 |
Niemann-Pick Disease Type C |
|
Apathy, Progressive gait ataxia, Progressive neurologic deterioration, Abnormal social behavior, ... |
ORPHA:646 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxie... |
OMIM:606438 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126840 |
Feingold Syndrome |
|
Abnormality of the spleen, Duodenal atresia, Annular pancreas, Esophageal atresia, Oral cleft |
ORPHA:1305 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Cholelithiasis, An... |
ORPHA:848 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Intestinal atresia, Anemia, Duodenal atresia |
ORPHA:3405 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ataxia, Attention deficit hyperactivity disorder, Hydrocephalus |
OMIM:618709 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Villous atrophy, Anemia, Splenomegaly, Increased circulating ferritin concentrat... |
OMIM:616050 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Duodenal atresia, Intestinal malrotation |
OMIM:619608 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... |
ORPHA:309108 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:615411 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... |
OMIM:615237 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Dysphagia, Anemia, Malabsorption, Abnormality of the gastrointestinal tract, Steato... |
ORPHA:2070 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... |
OMIM:619079 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia,... |
OMIM:615157 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety, Cerebellar hypoplasia |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety, Cerebellar hypoplasia |
OMIM:300979 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Ataxia, Cognitive impairment, Failure to thrive |
ORPHA:1314 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Macroglossia, Xerostomia, Anemia, Ab... |
ORPHA:85443 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pan... |
ORPHA:83469 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity, Hydrocephalus, Broad-based ... |
OMIM:619470 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Premature loss of permanent teeth, Peritonitis, Lymphadenopathy, Decrea... |
ORPHA:2686 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Narcolepsy, Ataxia, Resting tremor, Head tremor, Mental deterioration, Depres... |
ORPHA:314404 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Cln5 Disease |
|
Cerebellar atrophy, Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dys... |
ORPHA:228360 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Early-Onset Schizophrenia |
|
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Cognitive impairment, Lac... |
ORPHA:96369 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Perisylvian polymicrogyria, Hypoplasia of the pons, Cognitive impairment, Pac... |
ORPHA:300573 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Crohn's disea... |
OMIM:618935 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria |
OMIM:615412 |
Perlman Syndrome |
|
High, narrow palate, Hepatomegaly, Smooth philtrum, Abnormality of upper lip, Open mouth, Abnorma... |
ORPHA:2849 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ... |
OMIM:608184 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Ileal ulcer, Lymphopenia, Oral ulcer, Thrombocytopenia, Colitis |
OMIM:616744 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Leishmaniasis |
|
Abnormal oral cavity morphology, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly,... |
ORPHA:507 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Igg4-Related Thyroid Disease |
|
Dysphagia, Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, ... |
ORPHA:64744 |
Muir-Torre Syndrome |
|
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Salivary gland neoplasm, Colon ... |
ORPHA:587 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... |
ORPHA:95427 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... |
OMIM:609425 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia |
OMIM:617784 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dementia, Cerebellar atrophy, Dysmetria, Bradykinesia, Impaired tandem gait, Int... |
OMIM:300623 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Melioidosis |
|
Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morphology, Hepatitis, Parotit... |
ORPHA:31202 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Anemia, Splenomegaly, Increased circulatin... |
OMIM:613011 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Shyness, Cerebellar atrophy, Waddling gait, Overweight, Difficulty walking |
ORPHA:280763 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar cyst, Cerebellar atrophy, Pachygyria, Tip-toe gait, Gray matter heterotopia, Difficult... |
ORPHA:370980 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Abnormal palate morphology, Hepatomegaly, Dysphagia, Lymphadenopathy, Abn... |
ORPHA:100026 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety |
ORPHA:101039 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption |
ORPHA:79168 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... |
ORPHA:3077 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye ... |
OMIM:103050 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeostasis, Leukocytosis, Elevated hepatic... |
ORPHA:231222 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hepatitis, Anemi... |
OMIM:304790 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Smooth philtrum, Increased mean platelet volume, Intestinal pseudo-obstruction,... |
OMIM:300048 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat mala... |
ORPHA:79302 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity, Cerebellar ver... |
OMIM:300354 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Squamous cel... |
OMIM:618849 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Long philtrum, Anemia, Cholestasis, Hypoalbuminemia, Thrombocytopenia, Cryptorchidi... |
OMIM:608104 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Matthew-Wood Syndrome |
|
Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... |
ORPHA:2470 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Elevated circulating ... |
OMIM:611762 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Recurrent infection of the gastrointestinal tract |
OMIM:605258 |
Benign Schwannoma |
|
Abnormal parotid gland morphology, Intestinal polyposis, Abnormality of the liver, Abnormal esoph... |
ORPHA:252164 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased serum thromboxane B2, Gastric ulcer, Iron deficiency anemia, Abnormal c... |
OMIM:618372 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Hypercholanemia, Familial 1 |
|
Increased serum bile acid concentration, Steatorrhea, Fat malabsorption |
OMIM:607748 |
Foxg1 Syndrome |
|
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairm... |
ORPHA:561854 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemoly... |
OMIM:614034 |
Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anem... |
OMIM:603554 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Hsd10 Disease |
|
Gait disturbance, Choreoathetosis, Tremor, Ataxia, Abnormal social behavior |
ORPHA:391417 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Lymphadenopathy, Decreased mean platelet volume, Lymphocytos... |
OMIM:617718 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Stomatitis, Lymphadenopathy, Lymphadenitis, Ab... |
ORPHA:911 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... |
OMIM:606069 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... |
OMIM:616100 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive |
OMIM:618362 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Cognitive impai... |
ORPHA:370022 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Increased stool alpha1-antitrypsin concent... |
ORPHA:90362 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Lymph node hypoplasia, Absent tonsils, Oral ulcer |
OMIM:602450 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Hydrocephalus, Cerebellar hypoplasia, Gray matter heterotopia, Type II lissencephaly |
ORPHA:352682 |
Atypical Rett Syndrome |
|
Dystonia, Gait disturbance, Inappropriate crying, Impaired pain sensation, Poor eye contact, Inap... |
ORPHA:3095 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... |
ORPHA:66624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Cognitive impairment, Hydrocephalu... |
OMIM:615181 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Ck Syndrome |
|
Aggressive behavior, Slender build, Hyperactivity, Pachygyria, Irritability, Polymicrogyria |
ORPHA:251383 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Abnormality of the anterior pituitary, Lymphadenopathy, Retroperitoneal fibrosis, Pa... |
ORPHA:449563 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Jaundice, Intestinal obstruction, Generaliz... |
ORPHA:160 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Hypomagnesemia, Gloss... |
OMIM:175500 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Xerostomia, Lymphadenopathy, Retroperitoneal fibrosis, Nodula... |
ORPHA:79078 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Annular pancreas, Asplenia, Volvulus, Intestinal malrot... |
ORPHA:210122 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... |
OMIM:613153 |
Griscelli Syndrome |
|
Pyloric stenosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentra... |
ORPHA:381 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulating crea... |
ORPHA:85450 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity, Aggressive behavior, Cerebellar atrophy |
ORPHA:369939 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Lymphadenopathy, Leukemia, Anemia, Malabsorption, Ab... |
ORPHA:98850 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Hyperbilirubinemia, Prolonged neonatal jaundice, Intrahepatic... |
OMIM:214950 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Gomez-Lopez-Hernandez Syndrome |
|
Agenesis of cerebellar vermis, Self-injurious behavior, Cognitive impairment, Hyperactivity, Atax... |
OMIM:601853 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, No social interaction, Impaired social interactions, Obesity |
ORPHA:329249 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Gait disturbance, Cerebellar hypoplasia, Pachygyria |
OMIM:614563 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogress... |
ORPHA:314647 |
Alg6-Cdg |
|
Macroglossia, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration,... |
ORPHA:79320 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... |
ORPHA:329971 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Type II lissencephaly |
OMIM:615041 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Hyd... |
OMIM:615191 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:231226 |
Ck Syndrome |
|
Aggressive behavior, Slender build, Hyperactivity, Pachygyria, Irritability, Polymicrogyria |
OMIM:300831 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Hyperactivity, Ataxia, Mental deterioration |
OMIM:615924 |
Band Heterotopia |
|
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:600348 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Cerebellar dysplasia, Self-mutilation, Tremor, Overweight, Anxiety, Depression |
ORPHA:457240 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Exocrine pancreatic i... |
OMIM:167800 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula |
OMIM:223320 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic cysts, Hepatic fibrosis, Asplenia, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeostasis, Anisopoikilocytosis, Hepatic f... |
ORPHA:231214 |
Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Peritoneal abscess, Lymphadenopathy, Functional intestinal obstruc... |
ORPHA:1333 |
Feingold Syndrome 1 |
|
High palate, Duodenal atresia, Asplenia, Annular pancreas, Esophageal atresia, Accessory spleen, ... |
OMIM:164280 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration |
ORPHA:2382 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Acalvaria |
|
Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina... |
ORPHA:945 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Malabsorption, Hematochezia |
OMIM:277175 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia |
ORPHA:101029 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Cerebellar atrophy, Psychomotor deterioration, Cerebellar gliosis, Hy... |
ORPHA:35069 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... |
ORPHA:158061 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... |
OMIM:246200 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, D... |
OMIM:610217 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Smooth philtrum, High palate, Cleft pa... |
OMIM:235255 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Mediastina... |
OMIM:181000 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Gastrointestinal hemorrhage, Hypoalbuminemia, Portal hypertension... |
ORPHA:79319 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Leukopenia, Abnormal circulating lipid concentration, Enlarge... |
ORPHA:2298 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... |
OMIM:150550 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption |
OMIM:557000 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2216 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... |
OMIM:607115 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
OMIM:601859 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Cervical lymphadenopathy, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnorma... |
ORPHA:50918 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Immunodeficiency 72 With Autoinflammation |
|
Lymphadenopathy, Hepatosplenomegaly, Increased B cell count, Increased proportion of memory T cells |
OMIM:618982 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia |
OMIM:612716 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Cerebellar atrophy, Motor deterioration, Aggressive behavior, Hyperac... |
ORPHA:168491 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... |
OMIM:267700 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... |
OMIM:608189 |
Young-Onset Parkinson Disease |
|
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... |
ORPHA:2828 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly, Dysphagia |
ORPHA:50251 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice |
ORPHA:676 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Decreased body weight |
OMIM:618342 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Progressive psychomotor deterioration, Dementia, Chorea, Progressive gait ataxia, Inten... |
ORPHA:309271 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... |
ORPHA:79477 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Oral ulcer, Aplast... |
OMIM:615122 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Choles... |
ORPHA:92050 |
Congenital Contractural Arachnodactyly |
|
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation |
ORPHA:115 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... |
OMIM:615960 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Lack of peer relationships, Impaired social interactions, Unsteady... |
ORPHA:1942 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Cholestatic liver disease, Splenomegaly, Incr... |
ORPHA:540 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Anemia, Thrombocytopenia, Jaundice |
ORPHA:858 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Abnormality of mesentery morphology, Lymphadenopathy, Lymp... |
ORPHA:449395 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Hyperechogenic pancr... |
OMIM:617941 |
Lig4 Syndrome |
|
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Thin vermilion border, Malabsorption... |
ORPHA:99812 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia |
OMIM:617827 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid ... |
ORPHA:567983 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Tonne-Kalscheuer Syndrome |
|
Shyness, Self-injurious behavior, Aggressive behavior, Tremor, Broad-based gait, Anxiety |
OMIM:300978 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy, Nodular goiter, Abnormal liver parenchyma morphology, Primary hyperpa... |
ORPHA:1332 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymph node hypoplasia, Increased circulating inosine concentration, Neutropenia in ... |
OMIM:613179 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnor... |
ORPHA:101070 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Hyperactivity, Polymicrogyria, Impulsivity, Depression |
ORPHA:88616 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... |
OMIM:610042 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy |
ORPHA:2221 |
Fryns Syndrome |
|
Aganglionic megacolon, High palate, Cleft palate, Duodenal atresia, Long philtrum, Wide mouth, Ec... |
ORPHA:2059 |
Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... |
ORPHA:424016 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Hepatitis, Absence of lymph node germina... |
OMIM:308230 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Acanthocytosis, Increased hepatocellular lipid droplets, Hepatic steatosis, ... |
ORPHA:71 |
Tularemia |
|
Leukocytosis, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Lymphadeno... |
ORPHA:3392 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Hepatitis, Decreased serum iron, Cirrhosis, Colitis |
OMIM:614602 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Villous atrophy, Lymphadenopathy, T lymphocytopenia, Decreased proportion of C... |
OMIM:606367 |
Colonic Atresia |
|
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... |
ORPHA:1198 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Cleft upper lip, Bifid uvula,... |
OMIM:612561 |
Stromme Syndrome |
|
Cleft palate, Wide mouth, Duodenal atresia, Intestinal malrotation, Jejunal atresia, Accessory sp... |
OMIM:243605 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, High palate, Smooth philtrum, Alveolar... |
ORPHA:1655 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperactivity, Irritabil... |
ORPHA:449291 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... |
OMIM:614700 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hypoplasia o... |
OMIM:200995 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia, Intention tremor, Emoti... |
ORPHA:309263 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Jaundice |
ORPHA:99978 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Goiter, Lymphadenopathy, Nodular goiter, Tracheoesophageal fistula |
ORPHA:142 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia |
OMIM:608840 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... |
ORPHA:277 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Oligodontia, Macroglossia, Splenomegaly, Hypocalcemia, Cryptorchidis... |
OMIM:618440 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Self-mutilation, Hyperactivity, Cerebellar ver... |
OMIM:300486 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Chorea, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivit... |
ORPHA:485350 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Fanconi Anemia, Complementation Group F |
|
Duodenal atresia, Leukopenia, Decreased response to growth hormone stimulation test, Bone marrow ... |
OMIM:603467 |
Pancreatoblastoma |
|
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormality of the lymph nod... |
ORPHA:677 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Gray matter heterot... |
OMIM:617622 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia |
OMIM:617302 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Gingivi... |
ORPHA:379 |
Immunodeficiency 10 |
|
Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta, Autoimmune hemolytic anemia |
OMIM:612783 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hyperactivity, Hydrocephalus, Impaired... |
ORPHA:8 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk |
OMIM:618718 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy, Intestinal obstruction, Gastrointestinal hemorrhage, ... |
ORPHA:343 |
Aceruloplasminemia |
|
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... |
ORPHA:48818 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia |
ORPHA:79327 |
Thyroid Lymphoma |
|
Lymphadenopathy, Dysphagia, Goiter |
ORPHA:97285 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly |
ORPHA:85414 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Thick lower lip vermilion, Aganglionic megacolon, U-Shaped upper lip vermilion, Macroglossia, Vol... |
ORPHA:847 |
Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... |
OMIM:617751 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia |
OMIM:618048 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inability to walk,... |
ORPHA:500180 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Abnormal cerebellar vermis morphology, Truncal obesity |
OMIM:613192 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait, Unsteady gait |
OMIM:617865 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... |
ORPHA:103918 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... |
OMIM:603553 |
Microform Holoprosencephaly |
|
Cleft palate, Short philtrum, Duodenal atresia, Solitary median maxillary central incisor, Tented... |
ORPHA:280200 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity |
OMIM:617752 |
Childhood Absence Epilepsy |
|
Low self esteem, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Dep... |
ORPHA:64280 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Long philtrum, Ma... |
OMIM:141750 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Irritability, Emotional lab... |
ORPHA:1929 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Perisylvian polymicrogyria, Choreoathetosis, Cerebellar dysplasia, Chorea, Tremor, Hype... |
OMIM:615673 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Microlissencephaly, Periventricular heterotopia, Simplified gyral pattern, Pa... |
OMIM:616212 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Pancreatic hypoplasia, Neutropenia, Leukemia, Delayed eruption of teeth, Steatorrh... |
ORPHA:811 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Splenomegaly, Achalasia |
ORPHA:3386 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia |
OMIM:613155 |
Roifman Syndrome |
|
Hepatomegaly, Long philtrum, Lymphadenopathy, Splenomegaly, Downturned corners of mouth, Thin upp... |
OMIM:616651 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Anemia, M... |
ORPHA:79076 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Normal pressure hydrocephalus, Torticollis, Delayed social development, Spastic ataxia,... |
ORPHA:300570 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... |
OMIM:609981 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synaptic transmis... |
ORPHA:683 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Lymphadenopathy, Furrowed tongue, Cheilitis |
ORPHA:2483 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Cerebellar atrophy, 4-layered lissencephaly, Microlissencephaly |
ORPHA:89844 |
Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... |
OMIM:601095 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Duodenal ulcer, Decreased level of plasminogen, Gingival overgrowth, Pe... |
ORPHA:722 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, High palate, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Aplastic anemia |
OMIM:300514 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Radio-Tartaglia Syndrome |
|
Gait imbalance, Aggressive behavior, Poor eye contact, Tremor, Ataxia, Impulsivity, Gray matter h... |
OMIM:619312 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia, Lymphadenopathy, Anemia, Splenomegaly, Abnormalit... |
ORPHA:90340 |
Osteootohepatoenteric Syndrome |
|