Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Episodic Ataxia, Type 1 |
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Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... |
OMIM:160120 |
Lipodystrophy, Familial Partial, Type 1 |
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Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Spermatogenic Failure 46 |
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Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Partial Chromosome Y Deletion |
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Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Spermatogenic Failure 35 |
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Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
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Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
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Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
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Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
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Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 43 |
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Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
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Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
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Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Bleeding Disorder, Platelet-Type, 24 |
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Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... |
OMIM:619271 |
Spermatogenic Failure 54 |
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Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 56 |
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Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 57 |
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Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure, X-Linked, 3 |
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Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Glycogen Storage Disease 0, Liver |
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Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Spermatogenic Failure 42 |
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Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 50 |
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Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 5 |
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Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 11 |
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Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
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Abnormal sperm morphology, Infertility |
OMIM:608653 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Bleeding Disorder, Platelet-Type, 16 |
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Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Spermatogenic Failure 10 |
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Abnormal sperm morphology, Infertility |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
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Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Deafness-Infertility Syndrome |
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Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
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Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Spermatogenic Failure 41 |
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Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 59 |
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Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
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Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Isochromosomy Yq |
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Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Spermatogenic Failure 48 |
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Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Mody |
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Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Platelet Glycoprotein Iv Deficiency |
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Thrombocytopenia, Giant platelets |
OMIM:608404 |
Spermatogenic Failure 44 |
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Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Macrothrombocytopenia and progressive sensorineural deafness |
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Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Spermatogenic Failure 7 |
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Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 1 |
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Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Insulinomatosis And Diabetes Mellitus |
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Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Lipodystrophy, Familial Partial, Type 3 |
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Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... |
OMIM:604367 |
Spermatogenic Failure 24 |
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Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Wolfram-Like Syndrome, Autosomal Dominant |
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Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Spermatogenic Failure 21 |
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Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
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Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
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 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Sebastian syndrome |
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Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Giant platelets |
OMIM:137560 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
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Increased level of platelet-activating factor |
OMIM:614278 |
Spermatogenic Failure 6 |
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Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Deafness-Infertility Syndrome |
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Male infertility, Azoospermia |
ORPHA:94064 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Insulin Autoimmune Syndrome |
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Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Myh9-Related Disease |
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Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Giant platelets, Congen... |
ORPHA:182050 |
Ring Chromosome Y Syndrome |
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Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Obesity Due To Prohormone Convertase I Deficiency |
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Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:153640 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Slc35A1-Cdg |
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Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis |
ORPHA:238459 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... |
ORPHA:79084 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Morbid Obesity And Spermatogenic Failure |
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Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... |
OMIM:615703 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:324575 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas |
OMIM:145981 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hypomagnesemia, Male infertility, Hypocalcemia, Hyperphosphatemia |
ORPHA:2239 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Pancreatic islet-cell... |
OMIM:246200 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... |
ORPHA:71529 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... |
ORPHA:398063 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Pelger-Huet Anomaly |
|
Neutropenia, Umbilical hernia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant pl... |
OMIM:169400 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:151660 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas |
OMIM:600740 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:609069 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Myoclonus, Anemia, Intention tremor, Splenomegaly, Hypersplenism, Thrombocyt... |
OMIM:610539 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:615048 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Tremor, Ataxia, Flexion contracture, Spasticity |
OMIM:611105 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... |
OMIM:220111 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Ataxia-Pancytopenia Syndrome |
|
Babinski sign, Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia,... |
OMIM:159550 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia |
OMIM:153670 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... |
OMIM:608612 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... |
OMIM:615285 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Tremor, Hypo... |
ORPHA:1578 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... |
ORPHA:405 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia, Gait ataxia |
OMIM:254900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Multiple lipomas |
ORPHA:529 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Short Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... |
OMIM:269880 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
Saccharopinuria |
|
Hypercystinemia, Cystinuria, Hyperammonemia, Tremor, Abnormality of circulating enzyme level, Spa... |
ORPHA:3124 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Small for gestational age |
ORPHA:275555 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Cryptorchidism, ... |
OMIM:175700 |
Acute Lung Injury |
|
Abnormality of serum cytokine level, Increased circulating surfactant protein level, Increased ci... |
ORPHA:178320 |
Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Choreoathetosis, Anemia, Paraparesis, Hyperammonemia, Ataxia, Tetr... |
ORPHA:27 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... |
OMIM:614561 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... |
OMIM:615710 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Choreoathetosis, Chorea, Anemia, Hyperammonemia, Thrombocytopenia, Hemiplegia/hemipa... |
ORPHA:289916 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:248370 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Increased circulating ferritin concentration, Hypertriglycer... |
ORPHA:158061 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... |
ORPHA:90362 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hyperlipidemia, Ambiguous genitalia, female, Eunuchoid habitus, Hep... |
ORPHA:91 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Tongue fasciculations... |
ORPHA:276435 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Hypermanganesemia, Tremor, Ankle clonus, Spasticity, M... |
ORPHA:521406 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Gitelman Syndrome |
|
Paralysis, Chondrocalcinosis, Hypokalemia, Iron deficiency anemia, Failure to thrive, Hypomagnese... |
ORPHA:358 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... |
ORPHA:465508 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... |
ORPHA:320391 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Sple... |
ORPHA:848 |
Rhabdoid Tumor |
|
Hypercalcemia, Cerebral palsy, Weight loss, Anemia, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Amelogenesis imperfecta, Fa... |
OMIM:614727 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
East Syndrome |
|
Hypokalemia, Hypomagnesemia, Ataxia, Action tremor, Increased circulating renin level |
ORPHA:199343 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Anemia, Hypocalcemia |
OMIM:244460 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... |
OMIM:613101 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... |
OMIM:260370 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia, Tremor, A... |
OMIM:612953 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin... |
OMIM:235400 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Choreoathetosis, Failure to thrive, Anemia, Splenomegaly, Hyperammonemia, Thrombocyt... |
ORPHA:79312 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated circulating follicle stimulating horm... |
ORPHA:90793 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Thrombocytopenia, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... |
ORPHA:99885 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Hypertonia, Megaloblastic anemia, Spastic tetraplegia |
OMIM:601815 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly, Spasticity |
OMIM:610329 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia |
OMIM:619302 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoalbuminemia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopen... |
OMIM:267700 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration |
OMIM:614018 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... |
OMIM:616050 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency |
OMIM:615889 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia |
OMIM:613554 |
Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Rigidity, Polycythemia, Abnormality of extrapyramidal motor func... |
OMIM:613280 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Chondrocalcinosis, Hypokalemia |
OMIM:154020 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, D... |
OMIM:313200 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Ataxia, Camptodactyly, Thrombocytopenia, Inguinal hernia |
OMIM:616737 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Gaucher Disease, Type Iii |
|
Myoclonus, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia, Decreased body weight, Spastic p... |
OMIM:231000 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Aminoaciduria, Myoclonus, Anemia |
OMIM:614946 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Hypogonadism, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggreg... |
ORPHA:274 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia |
OMIM:261630 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Hemolytic anemia, Rigidity |
OMIM:615010 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Hypertonia, Spastic tetraplegia |
OMIM:619301 |
Myopathy, Spheroid Body |
|
Tremor, Elevated circulating creatine kinase concentration |
OMIM:182920 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age, Peritonitis |
ORPHA:391673 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Gait ataxia |
OMIM:618387 |
Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Failure to thrive, Ataxia, Thrombocytopenia, Folate-responsiv... |
OMIM:229050 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... |
ORPHA:70578 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypokalemia, Intention tremor, Hypomagnesemia, Ataxia, Dysdiadochokinesis, Increased circulating ... |
OMIM:612780 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Thrombocytopenia, Myoclonus, Ataxia |
OMIM:274240 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ... |
ORPHA:3085 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O... |
ORPHA:791 |
Gaucher Disease, Type Ii |
|
Rigidity, Failure to thrive, Anemia, Splenomegaly, Oculomotor apraxia, Spasticity, Thrombocytopenia |
OMIM:230900 |
Colchicine Poisoning |
|
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Hyperkalemia, Episodic hypokalemia, Weight loss, Respiratory paralysis, Mildly elevate... |
ORPHA:79102 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Hyperphenylalaninemia, Tremor... |
OMIM:261640 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... |
ORPHA:37042 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia, Spasticity |
ORPHA:67048 |
Leukodystrophy, Hypomyelinating, 11 |
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Tremor, Ataxia, Spasticity |
OMIM:616494 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration, Small for gestational age, Flexion contracture |
OMIM:616733 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Diffuse Alveolar Hemorrhage |
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Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Leishmaniasis |
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Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... |
ORPHA:507 |
Behr Syndrome |
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Progressive spasticity, Babinski sign, Dysmetria, Hamstring contractures, Achilles tendon contrac... |
OMIM:210000 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Obesity Due To Congenital Leptin Deficiency |
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Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Ataxia, Eyelid myoclonus, Pancytopenia, Thrombocytopenia |
OMIM:613839 |
Hyperlipoproteinemia, Type Iv |
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Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Migraine, Familial Hemiplegic, 1 |
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Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
Syndromic Diarrhea |
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Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat... |
ORPHA:84064 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Rapidly Involuting Congenital Hemangioma |
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Thrombocytopenia, Lipoatrophy |
ORPHA:141184 |
Glut1 Deficiency Syndrome 2 |
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Reticulocytosis, Tremor, Ataxia, Choreoathetosis |
OMIM:612126 |
Fanconi Anemia, Complementation Group T |
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Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a... |
ORPHA:540 |
Methylmalonic Aciduria, Cbla Type |
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Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... |
OMIM:251100 |
Dk Phocomelia Syndrome |
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Thrombocytopenia |
OMIM:223340 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Head titubation, Hypochromic microcytic anemia, Vestibular areflexia, Spastic tetraplegia, Increa... |
ORPHA:3240 |
Pseudo-Von Willebrand Disease |
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Intermittent thrombocytopenia |
OMIM:177820 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
Transaldolase Deficiency |
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Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Increased serum bile ac... |
ORPHA:101028 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
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Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Lathosterolosis |
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Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
Lymphoproliferative Syndrome 1 |
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Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... |
OMIM:613011 |
Omenn Syndrome |
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B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... |
OMIM:603554 |
Rabson-Mendenhall Syndrome |
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Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... |
ORPHA:769 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Babinski sign, Clonus, Hypochromic microcytic anemia, Dysmetria, Sideroblastic anemia, Intention ... |
OMIM:301310 |
Developmental And Epileptic Encephalopathy 32 |
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Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Alpha-Thalassemia |
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Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
Nephrotic Syndrome, Type 7 |
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Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Spastic Ataxia 2, Autosomal Recessive |
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Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Tremor, Kinetic tremor |
OMIM:611808 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hypoalbuminemia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased ... |
OMIM:603553 |
Gitelman Syndrome |
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Paralysis, Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Ataxia, Increased c... |
OMIM:263800 |
Bangstad Syndrome |
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Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Tropical Pancreatitis |
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Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Wt Limb-Blood Syndrome |
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Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Joint contracture of the 5th finger |
OMIM:194350 |
Wiskott-Aldrich Syndrome 2 |
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Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Paralysis, Leukocytosis, Hyponatremia, Myoclonus, Thrombocytopenia |
ORPHA:83601 |
Epilepsy, Progressive Myoclonic 7 |
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Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Polycythemia Vera |
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Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Thrombocytopenia 3 |
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Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
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Hypomagnesemia, Obesity |
ORPHA:34527 |
Congenital Disorder Of Glycosylation, Type Ix |
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Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Isolated Sedoheptulokinase Deficiency |
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Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Cholestasis, Flexion co... |
ORPHA:440713 |
Partial Androgen Insensitivity Syndrome |
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Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A... |
ORPHA:90797 |
46,Xy Partial Gonadal Dysgenesis |
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Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 45 |
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Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Immunodeficiency 46 |
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Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia |
OMIM:616740 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Aceruloplasminemia |
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Involuntary movements, Decreased circulating copper concentration, Hypochromic microcytic anemia,... |
ORPHA:48818 |
Galactokinase Deficiency |
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Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Pre... |
ORPHA:79237 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
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Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Congenital Disorder Of Glycosylation, Type Iif |
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Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Aminoaciduria, Macroth... |
OMIM:603585 |
47,Xyy Syndrome |
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Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hypoalbuminemia, Failure to thrive, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:608104 |
Osteopetrosis, Autosomal Recessive 8 |
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Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
+173470 integrin, beta-3 |
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Post-transfusion thrombocytopenia, Menorrhagia, Decreased platelet glycoprotein IIb-IIIa, Neonata... |
OMIM:173470 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Homocystinuria, Anemia, Thrombocytopeni... |
OMIM:614857 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Cystathioninemia, Fai... |
OMIM:277380 |
Classic Galactosemia |
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Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Male infertility, Primary amenorrhea, Prematu... |
ORPHA:79239 |
Perlman Syndrome |
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Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia, Fe... |
ORPHA:2849 |
Osteopetrosis, Autosomal Recessive 5 |
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Clonus, Anemia, Decreased osteoclast count, Spastic tetraplegia, Splenomegaly, Hyperbilirubinemia... |
OMIM:259720 |
Crigler-Najjar Syndrome Type 1 |
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Tremor, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... |
OMIM:613179 |
Aicardi-Goutieres Syndrome 5 |
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Thrombocytopenia, Flexion contracture, Spasticity |
OMIM:612952 |
Coach Syndrome 2 |
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Oculomotor apraxia, Elevated circulating creatinine concentration |
OMIM:619111 |
Beta-Ketothiolase Deficiency |
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Hyperglycemia, Hepatomegaly, Weight loss, Hypoglycemia |
ORPHA:134 |
Cystathioninuria |
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Tremor, Cystathioninuria, Cystathioninemia |
ORPHA:212 |
Holocarboxylase Synthetase Deficiency |
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Thrombocytopenia, Weight loss, Ataxia, Hyperammonemia |
ORPHA:79242 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
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Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
C3 Glomerulopathy |
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Elevated circulating creatinine concentration, Lipodystrophy |
ORPHA:329918 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Pearson Syndrome |
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Neutropenia, Hypokalemia, Small for gestational age, Anemia, Hypophosphatemia, Splenomegaly, Hypo... |
ORPHA:699 |
Hypermanganesemia With Dystonia 2 |
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Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Flexion contracture, Parkinsonism |
OMIM:617013 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Isolated Agammaglobulinemia |
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Failure to thrive, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, Cellulitis, Abnormal... |
ORPHA:229717 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Ataxia, Thrombocytopenia, Aminoac... |
OMIM:249270 |
Stormorken Syndrome |
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Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... |
OMIM:185070 |
Refractory Anemia With Excess Blasts |
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Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Decreased hemoglobin concentration, Hyperbilirubinemia, Tremor, Ataxia, Reticulocytosis, Hemolyti... |
ORPHA:713 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... |
ORPHA:216873 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Pearson Marrow-Pancreas Syndrome |
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Small for gestational age, Failure to thrive, Diabetes mellitus, Type I diabetes mellitus, Pancre... |
OMIM:557000 |
Thrombocytopenia 5 |
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Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Methylmalonic acidemia, Leukopenia, Failure to thrive, Hyperglycinemia, Hyperammonemia, Thrombocy... |
OMIM:251000 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Hepatosplenomegaly, Spasticity, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Decreased HDL cholesterol concentration, Elevated circulating creatin... |
ORPHA:85450 |
Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... |
OMIM:251110 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Propionic Acidemia |
|
Neutropenia, Limb hypertonia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, Hypergl... |
OMIM:606054 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Elevated circulating creatine kinase concentration, Limb fasciculations |
ORPHA:90117 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia, Limb hypertonia, Spasticity |
OMIM:616577 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia, Opisthotonus, Hypertonia |
OMIM:250800 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Increased serum py... |
OMIM:619405 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... |
ORPHA:139507 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Nephronophthisis-Like Nephropathy 2 |
|