| Wolfram-Like Syndrome, Autosomal Dominant |
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Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Anxiety, Depression |
OMIM:614296 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
| Bleeding Disorder, Platelet-Type, 24 |
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Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... |
OMIM:619271 |
| Wolfram-Like Syndrome |
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Dementia, Glucose intolerance, Progressive cerebellar ataxia, Male hypogonadism, Diabetes mellitu... |
ORPHA:411590 |
| Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Thrombocytopenia 3 |
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Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Bleeding Disorder, Platelet-Type, 16 |
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Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Thrombocytopenia 1 |
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Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Platelet Glycoprotein Iv Deficiency |
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Thrombocytopenia, Abnormality of the endocrine system, Giant platelets |
OMIM:608404 |
| Kennedy Disease |
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Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Decreased ... |
ORPHA:481 |
| Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
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Maturity-onset diabetes of the young, Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia |
OMIM:613370 |
| Macrothrombocytopenia and progressive sensorineural deafness |
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Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:155100 |
| Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear/anxiety-related behavior, Macroorchidism, Aggressive behavior, Shuffling gait, Hype... |
ORPHA:3077 |
| Spinocerebellar Ataxia 32 |
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Testicular atrophy, Infertility, Azoospermia, Cognitive impairment, Ataxia |
OMIM:613909 |
| Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Small for gestational age, Maturity-onset diabetes of the young, Diabetic keto... |
ORPHA:99886 |
| Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Azoospermia, Cognitive impairment, Progressive cerebellar ataxia, Male infert... |
ORPHA:276183 |
| Sebastian syndrome |
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Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia, Anxiety, Ataxia |
OMIM:618970 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Myh9-Related Disease |
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Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Giant platelets, Congen... |
ORPHA:182050 |
| Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Fechtner syndrome |
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Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:153640 |
| Bernard-Soulier Syndrome |
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Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
| Obesity Due To Sim1 Deficiency |
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Glucose intolerance, Cognitive impairment, Obesity, Attention deficit hyperactivity disorder, Hyp... |
ORPHA:369873 |
| Pandas |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
| Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Hypoglycemia, Long penis, Small for gestational age, Insulin-resistant diab... |
OMIM:262190 |
| Isolated Follicle Stimulating Hormone Deficiency |
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Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
| Hypogonadism, Male |
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Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
| Pelger-Huet Anomaly |
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Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
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Macrothrombocytopenia |
OMIM:613112 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
| Slc35A1-Cdg |
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Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Failure to thrive, Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia, Le... |
ORPHA:2089 |
| Symptomatic Form Of Hemochromatosis Type 1 |
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Testicular atrophy, Lethargy, Infertility, Amenorrhea, Hyperglycemia, Hypogonadotropic hypogonadi... |
ORPHA:465508 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
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Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
| Takenouchi-Kosaki Syndrome |
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Hypospadias, Increased mean platelet volume, Wide nasal bridge, Ataxia, Thrombocytopenia, Cryptor... |
OMIM:616737 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
| Wolfram Syndrome 1 |
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Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Ataxia, Diabe... |
OMIM:222300 |
| Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
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Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... |
OMIM:606176 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia |
OMIM:153670 |
| Hemochromatosis, Type 1 |
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Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Glucose intolerance, ... |
OMIM:235200 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
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Athetosis, Small for gestational age, Hyperglycemia, Glycosuria, Type I diabetes mellitus |
OMIM:618857 |
| Mody |
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Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
| Insulin-Resistance Syndrome Type B |
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Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
| Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Spermatogenic Failure, X-Linked, 2 |
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Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Sitosterolemia 1 |
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Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
| Trichohepatoenteric Syndrome 1 |
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Hypospadias, Thrombocytosis, Increased mean platelet volume, Small for gestational age, Failure t... |
OMIM:222470 |
| Lathosterolosis |
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Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Short nose, ... |
OMIM:607330 |
| Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
| Bleeding Disorder, Platelet-Type, 19 |
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Menorrhagia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Aarskog-Scott Syndrome |
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Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, S... |
OMIM:305400 |
| Syndromic Diarrhea |
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Thrombocytosis, Increased mean platelet volume, Small for gestational age, Hypoplasia of the thym... |
ORPHA:84064 |
| Bernard-Soulier Syndrome |
|
Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggreg... |
ORPHA:274 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hypoglycemia, Hyperglycemia, Failure to thrive, Wide nasal bridge, Ataxia |
OMIM:220111 |
| Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Long penis, Hyperglycemia, Pancreatic islet-cell hyperplasia, Clitoral hype... |
OMIM:246200 |
| Lipodystrophy, Familial Partial, Type 3 |
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Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic... |
OMIM:604367 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Secondary amenorrhea, Bradykinesia, Primary amenorrhea, Premature ovarian ins... |
OMIM:157640 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Self-injurious behavior, Megaloblastic anemia, Dystonia |
OMIM:300322 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Hypospadias, Increased mean platelet volume, Abnormality of the endocrine system, Wide nasal brid... |
ORPHA:487796 |
| Necrotizing Enterocolitis |
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Leukocytosis, Neutropenia, Small for gestational age, Hyperglycemia, Abnormal glucose homeostasis... |
ORPHA:391673 |
| Pancreatic And Cerebellar Agenesis |
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Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia, Diabetes mellitus |
OMIM:609069 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Steinert Myotonic Dystrophy |
|
Fatigable weakness of bulbar muscles, Endometrial carcinoma, Diabetes mellitus, Anxiety, Gait dis... |
ORPHA:273 |
| Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Weight loss, Apathy, Ataxia |
ORPHA:134 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:603585 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight loss, Glycosuria, Ataxia, Neonata... |
ORPHA:99885 |
| X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Inability to walk, Unsteady gai... |
ORPHA:3063 |
| Epilepsy, Familial Adult Myoclonic, 3 |
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Difficulty walking |
OMIM:613608 |
| Benign Adult Familial Myoclonic Epilepsy |
|
|
ORPHA:86814 |
