Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... |
ORPHA:293964 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... |
OMIM:615238 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... |
ORPHA:71529 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:617885 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast... |
ORPHA:276575 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive |
OMIM:606528 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity, Red hair, Hepatic steatosis |
OMIM:620195 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lipodystrophy, Familial Partial, Type 2 |
|
Adipose tissue loss, Increased intraabdominal fat, Hyperglycemia, Hepatic steatosis, Hepatomegaly... |
OMIM:151660 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Premature graying of hair, Increased intraabdominal fat, Hepatic steatosis, General... |
ORPHA:280365 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... |
DECIPHER:39 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... |
OMIM:246200 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Primary amenorrhea, Delayed thel... |
OMIM:616033 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Abdominal obesity, Hepatic ... |
OMIM:615980 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab... |
ORPHA:2204 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis, Generalized hirsutism |
ORPHA:79087 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:2348 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Cryptorchidism, Abnormal panc... |
ORPHA:2849 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
OMIM:615381 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... |
ORPHA:79237 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body weight, Glyco... |
ORPHA:263455 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of secondary se... |
ORPHA:785 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Acute pancreatitis, Lipodystrophy, ... |
OMIM:608594 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycem... |
OMIM:175700 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Acute pancreatitis, Lipodystrophy, ... |
OMIM:269700 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... |
OMIM:615547 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Joint stiffness, Splenomegaly, Aggressive behavior, He... |
OMIM:252920 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:619737 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density |
OMIM:619489 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:90301 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Po... |
ORPHA:177910 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion cont... |
OMIM:613327 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline... |
ORPHA:73272 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion... |
OMIM:214150 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... |
ORPHA:769 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela... |
OMIM:606407 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Werner Syndrome |
|
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Insulin resistance, Decreased... |
ORPHA:902 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteo... |
OMIM:235200 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Huntington Disease |
|
Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol u... |
ORPHA:399 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... |
ORPHA:261229 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal ... |
ORPHA:228402 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Vomit... |
ORPHA:79319 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... |
OMIM:239500 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis |
OMIM:611490 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Anorexia, Pericardial effu... |
ORPHA:77259 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... |
ORPHA:813 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Schnitzler Syndrome |
|
Splenomegaly, Arthritis, Increased bone mineral density, Hepatomegaly |
ORPHA:37748 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... |
ORPHA:412 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... |
ORPHA:79474 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Decreased glomerular filtration rate, Ch... |
ORPHA:730 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hy... |
OMIM:615710 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Alstrom Syndrome |
|
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... |
OMIM:203800 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... |
ORPHA:3163 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Oligozoospermia, Cryptorchidism |
OMIM:314300 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolera... |
ORPHA:2088 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Diarrhea, Weight loss, Agitation, Vomiting, Oral aversion, ... |
ORPHA:134 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... |
ORPHA:33543 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use, Vomiting, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroi... |
ORPHA:90065 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Steatorrhea, Hyperinsulinemic hypo... |
OMIM:602579 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Facial hypertrichosis, Overg... |
ORPHA:508 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Abnormal glucose hom... |
ORPHA:391673 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... |
ORPHA:525731 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Insulin resistance, ... |
ORPHA:3452 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... |
OMIM:606721 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmonic stenosis, Att... |
OMIM:620141 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Enterocolitis, Cholestasis, Central hypothyroidism, Weight loss, Vomiting, Constipation... |
ORPHA:95427 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Decreased glomerular filtration rate, Osteoporosis, Neph... |
OMIM:232200 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr... |
ORPHA:96182 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins... |
OMIM:617253 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Oste... |
OMIM:259700 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Vomiting |
OMIM:615453 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,... |
ORPHA:330015 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow |
ORPHA:171829 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome |
OMIM:269920 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Hypoglycemia, R... |
OMIM:608836 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Glomerulopathy, Proteinuria, Splenom... |
ORPHA:77297 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac... |
ORPHA:251004 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Precoci... |
ORPHA:3306 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... |
ORPHA:3464 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... |
ORPHA:79240 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... |
ORPHA:1782 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Small for gestational age, Sparse eyelashes, Premature ovari... |
ORPHA:125 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Abnormal pericardiu... |
ORPHA:35687 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Pericardial effusion, Abnormal... |
ORPHA:2905 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo... |
ORPHA:77261 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Oste... |
OMIM:232220 |
Fragile X Syndrome |
|
Joint laxity, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Re... |
OMIM:300624 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Retrograde ejaculation, Vomiting |
ORPHA:230 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Truncal obesity, Sparse h... |
OMIM:616541 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy... |
ORPHA:90154 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adrenocortical carc... |
OMIM:130650 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, High anterior hairline,... |
OMIM:616831 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Joint h... |
ORPHA:628 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes ins... |
ORPHA:293987 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Limited elbow mov... |
OMIM:300280 |
H Syndrome |
|
Decreased testicular size, Diabetes mellitus, Recurrent fractures, Abnormality of the kidney, Ost... |
ORPHA:168569 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Recurrent hypoglycemia, Endoca... |
OMIM:212140 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:615085 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Oligosacchariduria, Abnormal bone ... |
ORPHA:163649 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:369 |
Familial Chylomicronemia Syndrome |
|
Diabetes mellitus, Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concen... |
ORPHA:444490 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... |
OMIM:617303 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect,... |
OMIM:618280 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina... |
ORPHA:85188 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia... |
OMIM:227810 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Cebalid Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... |
ORPHA:264580 |
Monosomy 13Q34 |
|
Metrorrhagia, Insulin resistance, Obesity, Hematochezia, Horizontal eyebrow, Hepatic steatosis |
ORPHA:96168 |
Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ... |
ORPHA:397941 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Thicke... |
OMIM:253250 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Vomiting, Compulsive behaviors, Abnormal temper tantrums, R... |
ORPHA:3008 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Trisomy 18P |
|
Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Polyphagia, Highly arched eye... |
ORPHA:1715 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, A... |
OMIM:252900 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concen... |
ORPHA:391428 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Intestin... |
ORPHA:85450 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... |
OMIM:602668 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Insulin resistance, Diarrhea, Diabetic... |
ORPHA:358 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly |
OMIM:614702 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Renal Fanconi sy... |
OMIM:276700 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pericardial effusion, Fractures of the long bones, Splenomegaly, Osteolysis, Hepato... |
ORPHA:464329 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Ventricular septal defect, Hypospadias, Cardiomegaly, Multiple pren... |
OMIM:616897 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Aggressive behavior, Increased circulating ACTH level, Impoten... |
ORPHA:43 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Mitral valve calcificati... |
ORPHA:355 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation, Osteopetrosis |
OMIM:618541 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney |
ORPHA:94063 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypoglycemia, Proteinuria, Osteoporosis, Thyroiditis, Gout, Increased s... |
ORPHA:79259 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... |
OMIM:600001 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Hypergonadotropic hypogonadism, ... |
ORPHA:2959 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Hypoplastic female external genita... |
OMIM:612469 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... |
ORPHA:763 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism |
ORPHA:36913 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abnormal re... |
ORPHA:449291 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Decreased response to growth hormone stimulation test, Diaphyseal... |
ORPHA:94089 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... |
OMIM:261740 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... |
ORPHA:2780 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Increased bone mineral density |
ORPHA:1237 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardio... |
ORPHA:42 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Hepatomegaly, Osteopetrosis, Hepatosplenomegaly |
OMIM:612840 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bo... |
OMIM:618188 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot,... |
OMIM:601005 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal heart valve morphology, Camptodactyly of finger, Tarsal ... |
ORPHA:90652 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hypoketotic hypoglycemia |
OMIM:255120 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... |
ORPHA:90153 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... |
ORPHA:416 |
Beck-Fahrner Syndrome |
|
Attention deficit hyperactivity disorder, Ventricular septal defect, Joint hypermobility, Cardiom... |
OMIM:618798 |
Rett Syndrome |
|
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... |
ORPHA:778 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... |
OMIM:239850 |
Desmosterolosis |
|
Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Splenomegaly, Anomalous... |
ORPHA:35107 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... |
ORPHA:90041 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long... |
OMIM:156200 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, A... |
OMIM:252930 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating gro... |
OMIM:608747 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79443 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Sparse hair, ... |
OMIM:614813 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Adnp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidis... |
ORPHA:404448 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Flexion contracture, Hepatosple... |
ORPHA:505248 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Hypospadias, Congenital diaphragmatic hernia, Aggr... |
ORPHA:96121 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, External genital hypoplasia, Aggressive behavior, Cryptorchidism, Self-mutilation, ... |
ORPHA:251028 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Highly arched eye... |
ORPHA:444077 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Hyperactivity, Recurrent urinary tract infections, Decreased response to growth hor... |
OMIM:615873 |
Dend Syndrome |
|
Hyperglycemia, Vomiting |
ORPHA:79134 |
Gapo Syndrome |
|
Dysmenorrhea, Oligozoospermia, Hypogonadism, Umbilical hernia, Amenorrhea |
ORPHA:2067 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periporta... |
OMIM:124000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Car... |
OMIM:201475 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Small for gestational age, Highly arched eyebrow, Hypospadias, Mic... |
OMIM:220111 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Limitation of joint mobil... |
OMIM:252500 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial... |
ORPHA:904 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... |
OMIM:259900 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99228 |
Monosomy X |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99226 |
Turner Syndrome |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:881 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... |
OMIM:259720 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Cryptorchidism, Epispadia... |
ORPHA:2658 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia |
OMIM:307030 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, I... |
OMIM:618476 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Decreased response to growth ho... |
OMIM:602782 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Hepatomeg... |
ORPHA:116 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Fine hair, Hydrocele testis, Camptodactyly, Sparse hair, Umbilic... |
OMIM:277590 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetrosis, Distal renal tubul... |
OMIM:259730 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux... |
ORPHA:1606 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Hyp... |
OMIM:617713 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Cardiomegaly, Limited knee flexion/extension, Pollakisuria, Dysphagia, Li... |
ORPHA:268 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Priapism |
ORPHA:466677 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... |
ORPHA:363705 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Craniosynostosis |
OMIM:200995 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Sparse eyebro... |
OMIM:614008 |
Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... |
OMIM:260370 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... |
ORPHA:740 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets |
OMIM:208000 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney, Rheumatoid arthritis |
ORPHA:79128 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged k... |
OMIM:612651 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Ventricular septal d... |
ORPHA:209905 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619418 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Hepatomegaly, Hyperactivity, Joint stiffness, Cardiomegaly, Splenomega... |
ORPHA:581 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Cardiomegaly |
OMIM:613320 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Priapism |
OMIM:603903 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia |
ORPHA:1414 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Hypoglycem... |
OMIM:614921 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Recurrent fractures, Joint hypermobility, Craniosynostosis, Ca... |
OMIM:245600 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Arthrogryposis multipl... |
OMIM:259775 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... |
ORPHA:57777 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Vomiting, Elevated hepatic iron concentration, ... |
OMIM:619991 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, E... |
OMIM:227650 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Diabetes mellitus, Hypertriglyceridemia |
ORPHA:536532 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Cryptorchidism, Congenital hypopa... |
ORPHA:2323 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Inappropri... |
OMIM:618143 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Cardiomegaly, Abnormal thymus morphology, Abnormal bone ossification, Joint hypermobi... |
ORPHA:2463 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistula, ... |
OMIM:614294 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... |
ORPHA:79330 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivi... |
OMIM:300967 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita, To... |
OMIM:602398 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Hyperactivity, Abnorma... |
ORPHA:805 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Aggressive behavior, Cryptorch... |
OMIM:607872 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Arthrogryposis multiplex... |
OMIM:608013 |
Maternal Phenylketonuria |
|
Hyperactivity, Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, H... |
ORPHA:2209 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defe... |
ORPHA:96191 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Pmm2-Cdg |
|
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... |
ORPHA:79318 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Cryptorchidism, Renal cyst, C... |
OMIM:312870 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Gluco... |
ORPHA:189427 |
Tetrasomy 9P |
|
Absent gallbladder, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Oligozoospermia,... |
ORPHA:3310 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Splenom... |
ORPHA:667 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms |
OMIM:244400 |
Osteopetrosis, Autosomal Recessive 7 |
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Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly |
OMIM:612301 |
Immunodeficiency 87 And Autoimmunity |
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Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavio... |
OMIM:620330 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... |
OMIM:256040 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Recurrent fractures, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubula... |
ORPHA:2785 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Osteopetrosis |
ORPHA:3240 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy |
ORPHA:3063 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Congenital Tracheomalacia |
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Atrial septal defect, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous... |
ORPHA:95430 |
Schinzel-Giedion Midface Retraction Syndrome |
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Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Hydronephrosis, Scl... |
OMIM:269150 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Cleidocranial Dysplasia 1 |
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Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Cardiomegaly, Flexion contracture, Osteoporosis, Oligosacchariduria, Dysphagia, Lef... |
ORPHA:365 |
Glycogen Storage Disease Ic |
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Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232240 |
Cystic Fibrosis |
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Male infertility, Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenom... |
OMIM:219700 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Fixed elbow flex... |
ORPHA:97297 |
Floating-Harbor Syndrome |
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Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Sclerosteosis 1 |
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Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Glycogen Storage Disease Ii |
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Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst |
ORPHA:137675 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Abetalipoproteinemia |
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Osteopenia, Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:14 |
Aicardi-Goutières Syndrome |
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Multiple joint contractures, Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Micropenis, Art... |
ORPHA:51 |
Floating-Harbor Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Histidinemia |
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Histidinuria, Hyperactivity |
ORPHA:2157 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia |
OMIM:264090 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Adrenal calcification, Cardiomegaly, Pe... |
ORPHA:51608 |
Yunis-Varon Syndrome |
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Absent sternal ossification, Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism... |
ORPHA:3472 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Type II diabetes mellitus |
ORPHA:3455 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Woodhouse-Sakati Syndrome |
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Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
Leukocyte Adhesion Deficiency |
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Peritonitis, Recurrent aphthous stomatitis, Nail dystrophy, Hyperinsulinemic hypoglycemia, Vaginitis |
ORPHA:2968 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Singleton-Merten Syndrome 1 |
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Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |
Noonan Syndrome 1 |
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Male infertility, Cryptorchidism, Hypogonadism, Hypospadias |
OMIM:163950 |