| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... |
ORPHA:79085 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Decreased ser... |
OMIM:615238 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... |
OMIM:615703 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... |
ORPHA:280356 |
| Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... |
ORPHA:71526 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... |
ORPHA:435651 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... |
OMIM:608600 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... |
ORPHA:324575 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| 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 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276575 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... |
ORPHA:293964 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276580 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Diabetes mellitus |
OMIM:602475 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... |
ORPHA:276556 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Decreased circulating corti... |
OMIM:600955 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Oligom... |
OMIM:613877 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... |
ORPHA:552 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Reactive hypoglycemi... |
ORPHA:35878 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive |
OMIM:601410 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resista... |
OMIM:262190 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... |
OMIM:151660 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... |
ORPHA:280365 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Low posterior hair... |
ORPHA:528 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair |
OMIM:620195 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:329249 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec... |
OMIM:614962 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... |
OMIM:616033 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long peni... |
OMIM:246200 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level |
OMIM:618856 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:618620 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... |
ORPHA:79083 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... |
ORPHA:71212 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hepatosplenomegaly, Hyperch... |
ORPHA:79237 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... |
OMIM:614963 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... |
ORPHA:3085 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly,... |
ORPHA:2204 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting, Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational... |
ORPHA:263455 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia |
OMIM:605911 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... |
ORPHA:8 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipoatrophy, Generalized hirsutism |
ORPHA:79087 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... |
ORPHA:2348 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... |
OMIM:614662 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... |
ORPHA:261519 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Cryptorchidism, Hepatic steatosis, Lipodystrophy, Loss of ... |
OMIM:615381 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
DECIPHER:39 |
| Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... |
ORPHA:753 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... |
OMIM:608612 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... |
ORPHA:465508 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe... |
ORPHA:2849 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Cholestasis, Obesity, Adrenal insufficienc... |
OMIM:609734 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, P... |
OMIM:608594 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity |
OMIM:615986 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... |
ORPHA:785 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... |
OMIM:275000 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose t... |
OMIM:269700 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin... |
OMIM:620085 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:98793 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:98754 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:177904 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility |
ORPHA:1445 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Sparse scalp hair, Increased adipose tissue around the neck, Insulin-resistant diabetes... |
OMIM:248370 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... |
OMIM:264300 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:177901 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, L... |
ORPHA:73272 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ... |
OMIM:122860 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
| Estrogen Resistance |
|
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... |
OMIM:615363 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Cryp... |
OMIM:615547 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Fasting hyperinsulinemia |
OMIM:619489 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Rabson-Mendenhall Syndrome |
|
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced sub... |
ORPHA:769 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia |
OMIM:610768 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Huntington Disease |
|
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... |
ORPHA:399 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Ileus, Hepatic steatosis, Splenomegaly, ... |
OMIM:613327 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Pathologic fracture, Ost... |
OMIM:620366 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Long eyelashes, Hypocal... |
OMIM:606407 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Obesity, Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation... |
ORPHA:177910 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... |
ORPHA:752 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... |
ORPHA:10 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... |
OMIM:609812 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... |
ORPHA:398079 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to th... |
ORPHA:79319 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria |
OMIM:618857 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology |
ORPHA:85447 |
| Axial Osteomalacia |
|
Renal cyst, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... |
OMIM:175700 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem... |
ORPHA:26793 |
| Aromatase Deficiency |
|
Insulin resistance, Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, E... |
ORPHA:91 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
| Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Reduced subcutaneous adipo... |
OMIM:609069 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Oral aversion, We... |
ORPHA:134 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... |
ORPHA:398069 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Werner Syndrome |
|
Insulin resistance, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Hypogonadi... |
ORPHA:902 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia... |
OMIM:615710 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| 14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroid... |
ORPHA:261229 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
| Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia |
OMIM:616222 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Vomiting, Failure to thrive, Hypoglycemia,... |
ORPHA:3008 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Prader-Willi Syndrome |
|
Small scrotum, Hyperinsulinemia, Frontal upsweep of hair, Type II diabetes mellitus, Cryptorchidi... |
OMIM:176270 |
| Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:239500 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia |
OMIM:603471 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, P... |
ORPHA:739 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... |
OMIM:300845 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Alstrom Syndrome |
|
Irregular menstruation, Alopecia, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol ... |
OMIM:203800 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Morm Syndrome |
|
Micropenis, Aggressive behavior, Hyperactivity, Abnormality of the kidney |
ORPHA:75858 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Arthritis |
ORPHA:37748 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... |
ORPHA:228402 |
| Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Bloody diarrhea, Hyperglycemia, Cyanosis, Abnormal glucose homeostasis, Hypon... |
ORPHA:391673 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Cirrhosis, Hyperinsulin... |
OMIM:602579 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc... |
ORPHA:2088 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Kleine-Levin Syndrome |
|
Polydipsia, Decreased libido, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive com... |
ORPHA:33543 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Lead Poisoning |
|
Vomiting, Decreased male libido, Reduced sperm motility, Abnormality of the menstrual cycle, Decr... |
ORPHA:330015 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... |
ORPHA:79474 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Central hypothyroidism, Failure to thrive, Vomiting, Cholestasis, Primary hypothyroidis... |
ORPHA:95427 |
| Short Syndrome |
|
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... |
ORPHA:3163 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Failure to thrive, Glycosuria... |
OMIM:227810 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Abnormal m... |
ORPHA:813 |
| Whipple Disease |
|
Insulin resistance, Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Splenomegaly, Hyponatremia... |
ORPHA:3452 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia |
OMIM:615453 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Tangier Disease |
|
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Clitoral hypertrophy, Cent... |
ORPHA:508 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... |
OMIM:615947 |
| 48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96263 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Hypopituitarism, Hyperglycemia, Addictive alcohol use, Hypothyroidism, Hypercholesterol... |
ORPHA:90065 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... |
ORPHA:2126 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:619013 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... |
ORPHA:300298 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Failure to thrive, Pancreatic hypoplasi... |
ORPHA:99885 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Vomiting, Diarrhea, Hypoglycemia, Elevated circulating creatinine concentrati... |
ORPHA:230 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Diarrhea, Failure to thrive, Vom... |
OMIM:606721 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Placental Insufficiency |
|
Insulin resistance, Hypoxemia, Small for gestational age |
ORPHA:439167 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Hypopigmentation of hair |
ORPHA:411515 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, S... |
ORPHA:525731 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| 49,Xxxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96264 |
| Classic Galactosemia |
|
Hypoglycemia, Premature ovarian insufficiency, Attention deficit hyperactivity disorder, Decrease... |
ORPHA:79239 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... |
OMIM:620141 |
| Poems Syndrome |
|
Visceromegaly, Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis o... |
ORPHA:2905 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical... |
ORPHA:681 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Splenomegaly, Femur fracture, Osteopetrosis, Calvarial osteos... |
OMIM:259700 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Gout, Nep... |
OMIM:232200 |
| Seckel Syndrome 10 |
|
Insulin resistance, Glycosuria, Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1... |
OMIM:617253 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:617575 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... |
OMIM:615415 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Low urin... |
ORPHA:94089 |
| Majeed Syndrome |
|
Osteomyelitis, Splenomegaly, Increased susceptibility to fractures, Proteinuria, Synovitis, Glome... |
ORPHA:77297 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... |
ORPHA:3464 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Joubert Syndrome 10 |
|
Obesity, Frequent temper tantrums, Decreased body weight, Hirsutism, Polyphagia |
OMIM:300804 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... |
OMIM:619927 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome |
OMIM:269920 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Shawl scrotum, M... |
OMIM:620439 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow |
ORPHA:171829 |
| Diaphanospondylodysostosis |
|
Tracheomalacia, Delayed vertebral ossification, Nephroblastomatosis, Horseshoe kidney, Nephrogeni... |
OMIM:608022 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
| Erdheim-Chester Disease |
|
Polydipsia, Abnormal pericardium morphology, Osteomyelitis, Renal insufficiency, Abnormal aortic ... |
ORPHA:35687 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... |
ORPHA:251066 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E... |
OMIM:618052 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Cryptorchidism, Hy... |
OMIM:616541 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Ventricular septal defect, Incre... |
ORPHA:1782 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hypoglycemia, Elbow flexion contracture, Renal insufficiency, Knee flexio... |
OMIM:608836 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Bloom Syndrome |
|
Insulin resistance, Gastroesophageal reflux, Azoospermia, Sparse eyelashes, Adipose tissue loss, ... |
ORPHA:125 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Proteinuria, Polyphagia, Delayed puberty, Membranoproliferative glomerulonep... |
ORPHA:251004 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Vomiting, ... |
ORPHA:96182 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia,... |
ORPHA:79240 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Unilateral renal agenesis, Tetralogy of Fallot, Hypogonadism, Ventricular sep... |
ORPHA:3306 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... |
OMIM:619827 |
| Cole Disease |
|
Abnormal hair morphology, Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy |
OMIM:600649 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased HDL cholester... |
ORPHA:85450 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... |
ORPHA:158057 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Increased susceptibili... |
ORPHA:77261 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia... |
ORPHA:90154 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Monosomy 13Q34 |
|
Insulin resistance, Hematochezia, Horizontal eyebrow, Obesity, Hepatic steatosis, Metrorrhagia, H... |
ORPHA:96168 |
| Familial Chylomicronemia Syndrome |
|
Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyce... |
ORPHA:444490 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Polyphagi... |
OMIM:616831 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:369 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia, Hypoglycemia |
OMIM:620454 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Angelman Syndrome |
|
Self-injurious behavior, Precocious puberty in females, Gastroesophageal reflux, Fair hair, Vomit... |
ORPHA:72 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Myotonic Dystrophy 2 |
|
Insulin insensitivity, Frontal balding, Hypogonadism, Type II diabetes mellitus, Elevated circula... |
OMIM:602668 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Gout, Spl... |
OMIM:232220 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
| Osteogenesis Imperfecta, Type Xiii |
|
Enuresis nocturna, Increased bone mineral density, Joint hypermobility, Limitation of knee mobili... |
OMIM:614856 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Cyanosis, Agitation, Impulsivity, Hyperactivity, Hy... |
OMIM:620423 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Werner Syndrome |
|
Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia |
OMIM:277700 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
| Gitelman Syndrome |
|
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Graves disease, Polydipsia, Glucose int... |
ORPHA:358 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Epiphyseal stippling, Increased... |
OMIM:256550 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Oligosacchariduria, Abnormal bone ... |
ORPHA:163649 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Obesity, Abnormali... |
OMIM:209900 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Endoc... |
OMIM:212140 |
| Cebalid Syndrome |
|
Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia |
OMIM:618774 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... |
OMIM:300942 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| H Syndrome |
|
Osteolysis, Hypogonadism, Hepatosplenomegaly, Azoospermia, Amenorrhea, Camptodactyly, Delayed pub... |
ORPHA:168569 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Hypertrophic cardiomyopathy, Splenomegaly, Protein... |
OMIM:617303 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomegaly, Osteopetrosis,... |
OMIM:259710 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... |
OMIM:130650 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:79444 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Truncal obesity, Lon... |
ORPHA:397941 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Fasting h... |
ORPHA:264580 |
| Mulibrey Nanism |
|
Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, Pericardial constriction, Hepatomeg... |
OMIM:253250 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Cardiomegaly, ... |
ORPHA:391428 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hydronephrosis,... |
OMIM:616897 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Hypoglycemia, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hypoglycemia |
ORPHA:156 |
| Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Multiple... |
ORPHA:464329 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98855 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis |
ORPHA:615 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycemia, Hypertrophic cardiomyopat... |
OMIM:276700 |
| Macrophage Activation Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... |
ORPHA:158061 |
| X-Linked Adrenoleukodystrophy |
|
Urinary bladder sphincter dysfunction, Abnormality of adrenal physiology, Adrenal insufficiency, ... |
ORPHA:43 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... |
ORPHA:91351 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... |
ORPHA:53 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hydroxyprolinuria, Increased bone mineral density, Hypercalciuria, Ankylosis, Osteopo... |
OMIM:239000 |
| Meacham Syndrome |
|
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Ventricular sept... |
OMIM:608978 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Reduced renal corticomedullary differentiation, Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| 12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Osteopoikilosis, Ectopic kidney, Diabetes mellitus |
ORPHA:94063 |
| Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hyperactivity, Hepatomegaly, A... |
OMIM:252900 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Alopecia, Gastroesophageal reflux, Insulin-resistant diabetes mellitus... |
ORPHA:2959 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Tracheomalacia, Biventricular hypertrophy, Te... |
OMIM:618280 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Osteopenia, Nephrocalcinosis, Hypoglycemic seizures, Hypoglycemia, Menorr... |
ORPHA:79259 |
| Fragile X Syndrome |
|
Recurrent hand flapping, Mitral valve prolapse, Joint hypermobility, Hyperactivity, Self-biting |
OMIM:300624 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Failure to thrive, Umbilical hernia, Pancreatic hypoplasia, Hyperglycemia, Absent gal... |
OMIM:600001 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Increased bone mineral density |
ORPHA:36913 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98853 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Hypomagnesemia, Obesity, Weight... |
ORPHA:79102 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Decreased response to growth hormone stimulation test, Hepatosplenomega... |
ORPHA:763 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Trisomy 18P |
|
Attention deficit hyperactivity disorder, Highly arched eyebrow, Polyphagia, Bilateral cryptorchi... |
ORPHA:1715 |
| Methanol Poisoning |
|
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia |
ORPHA:31825 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Steinert Myotonic Dystrophy |
|
Diarrhea, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive ... |
ORPHA:273 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Cardiomegaly, Distal... |
ORPHA:42 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... |
OMIM:601005 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c, Vomiting |
ORPHA:79134 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Mitral valve prolapse... |
ORPHA:449291 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, ... |
ORPHA:2780 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:79443 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly |
OMIM:612840 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Situs i... |
OMIM:208540 |
| Bloom Syndrome |
|
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism |
OMIM:210900 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Fractured rib, Osteopenia, Hyperparathyroidism, Recurrent fractures, S... |
OMIM:618188 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Abnormal heart valve morphology, Ureteral obstruct... |
ORPHA:90652 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabetes mellitus, I... |
ORPHA:90041 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent... |
ORPHA:90153 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Highly arched eyebrow, Gastroesophageal reflux, Bruxism, Long eyelashes,... |
OMIM:156200 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Ric... |
ORPHA:289176 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Cardiomyopathy, Sta... |
ORPHA:416 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... |
OMIM:239850 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Joint hypermobility, Ventricular septal d... |
OMIM:618798 |
| Wagro Syndrome |
|
Hypoplastic female external genitalia, Decreased testicular size, Obesity, Polyphagia, Aggressive... |
OMIM:612469 |
| Desmosterolosis |
|
Renal agenesis, Splenomegaly, Renal hypoplasia/aplasia, Osteopetrosis, Increased bone mineral den... |
ORPHA:35107 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... |
OMIM:124000 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Bardet-Biedl Syndrome |
|
Inflammation of the large intestine, Hydrometrocolpos, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:110 |
| Scorpion Envenomation |
|
Vomiting, Diarrhea, Glycosuria, Priapism, Hyperglycemia, Hypokalemia, Increased circulating creat... |
ORPHA:466677 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hyperactivity, Hepatomegaly, A... |
OMIM:252930 |
| Gaucher Disease |
|
Aortic valve calcification, Hematuria, Hepatomegaly, Dysphagia, Abnormal bone structure, Osteopen... |
ORPHA:355 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia |
OMIM:610717 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hypospadias, Vomiting, Failure to thrive, Hypoglycemia, Hyperglycemia, Ing... |
OMIM:220111 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormal heart morphology, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycos... |
ORPHA:505248 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Failure to thrive, Breast hypoplasia, Oligozoospermia, Sparse hair, Diabetes mellitus, Small for ... |
OMIM:614813 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:540 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Right ventricular dilatation, Abnormal heart morphology, Pericardial e... |
ORPHA:79328 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Ventricular septal defect, C... |
OMIM:620609 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating gro... |
OMIM:608747 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... |
OMIM:617600 |
| Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Bruxism, Hyperammonemia, Cholecystitis, Stereotypical ... |
ORPHA:778 |
| Adnp Syndrome |
|
Abnormal temper tantrums, High anterior hairline, Gastroesophageal reflux, Vomiting, Oral-pharyng... |
ORPHA:404448 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Gastroesophageal reflux, Decreased response to growth hormone stimulation ... |
ORPHA:444077 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Exocrine ... |
OMIM:260370 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Polyuria, Hyperactivity, Self-biting, Renal potassium ... |
OMIM:618314 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Polydipsia, Elevated circulating parathyroid hormone level, Metacarpal periosteal thi... |
OMIM:617994 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Limitation of joint mobility, Hypertrophic cardiomyopathy, Pathologic fracture, Splen... |
OMIM:252500 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Gapo Syndrome |
|
Umbilical hernia, Hypogonadism, Dysmenorrhea, Amenorrhea, Oligozoospermia |
ORPHA:2067 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Hypospadias, Horizontal eyebrow, Aplasia/hypoplasia of the uterus, Spars... |
ORPHA:96121 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:881 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... |
ORPHA:85327 |
| Williams Syndrome |
|
Synostosis of joints, Type II diabetes mellitus, Overfriendliness, Ventricular septal defect, Mit... |
ORPHA:904 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Thyroiditis, Acute kidney injury, Urinary bladder inflammation, Urethriti... |
ORPHA:449395 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Pathologic fracture, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated ur... |
OMIM:259900 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Cardiomegaly,... |
OMIM:201475 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Fine hair, Decreased testicular size, External genital hypoplasia, Cryptorchidism, ... |
ORPHA:251028 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Bruxism, Decrea... |
OMIM:615873 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine... |
OMIM:255120 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Hepatosplenomegaly, Splenomegaly, Osteopetrosis, Decreased osteoclast count... |
OMIM:259720 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal insuffici... |
ORPHA:228308 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Camptodactyly of finger, Elbow flexion contracture, Decreased response ... |
OMIM:602782 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Inappropriate laughter, Osteopetrosis,... |
OMIM:618476 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
| Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Diarrhea, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic ... |
OMIM:619991 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosi... |
ORPHA:2658 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Hepatosplenomegaly, Distal renal tubular acidosis, Osteopetrosis, Diaphysea... |
OMIM:259730 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Nephrot... |
OMIM:617713 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Limited hip movement, Limited elbow movement, Cardiomegaly, Dysph... |
ORPHA:268 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Abnormality of the spleen, Hepatic steatosis, Cryp... |
ORPHA:1606 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Osteopenia, Abnormal heart valve morphology, Ventricular septal defect, Ca... |
ORPHA:363705 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Delayed puberty, Cortical thickening of long bone diaphyses, Increased b... |
OMIM:131300 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Pap... |
OMIM:193300 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Craniosynostosis, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Alström Syndrome |
|
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, H... |
ORPHA:64 |
| Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Shoulder flexion contracture, Abnormality of the ureter, Joint... |
ORPHA:800 |
| Weaver Syndrome |
|
Joint contracture of the hand, Fine hair, Umbilical hernia, Inguinal hernia, Cryptorchidism, Poly... |
OMIM:277590 |
| Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Adrenocortical cytomegaly,... |
ORPHA:116 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia |
ORPHA:1414 |
| Glycerol Kinase Deficiency |
|
Hyperglycerolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:307030 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Rheumatoid arthritis, Enlarged kidney |
ORPHA:79128 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets, Cardiomegaly, Ankylosis |
OMIM:208000 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneo... |
ORPHA:740 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Craniofacial hyperostosis, Heparan sulfate excretion in urine, Joint st... |
ORPHA:581 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Decreased response to growth hormone stimulation test, Congenital hypopara... |
OMIM:241410 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Ventricular septal defect... |
OMIM:620558 |
| Sickle Cell Disease |
|
Priapism, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... |
OMIM:137920 |
| Fanconi Anemia |
|
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper... |
ORPHA:84 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Nephroblastoma, ... |
ORPHA:500095 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Megacystis, Congenital hypothyroi... |
ORPHA:209905 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... |
ORPHA:157 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Addictive alcohol use, Left ventricular hypertrophy, Hepat... |
ORPHA:57777 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia |
ORPHA:98908 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Neonatal hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:619418 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Trichothiodystrophy |
|
Osteopenia, Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Craniosynosto... |
ORPHA:33364 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Delayed epiphyseal ossification |
OMIM:613320 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Generalized osteoporosis, Osteopenia, Elbow flexion contracture, Mitral valve prolapse, Patent fo... |
OMIM:245600 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacchar... |
OMIM:268800 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Mot... |
OMIM:300855 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis, Subperiosteal bone formation, Increased bone mineral density, Arthro... |
OMIM:259775 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hydronephrosis, De... |
OMIM:614921 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Diabetes mellitus, Hypertriglyceridemia |
ORPHA:536532 |
| Endocrine-Cerebroosteodysplasia |
|
Microphallus, Hyperechogenic kidneys, Adrenal hypoplasia, Hypospadias, Enlarged kidney |
OMIM:612651 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus |
ORPHA:439232 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Weight loss, Hypophosphatemia, Hepatomegaly, Dysph... |
OMIM:219800 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Proteinuria, Acute kidney injury |
OMIM:618886 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria, Limitation of joint mobility, Rickets, Generalized osteos... |
ORPHA:89936 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Joint hypermobility, Cardiomegaly, Abnormal bone ossification, Abnormal thymus morpho... |
ORPHA:2463 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Fanconi Anemia, Complementation Group A |
|
Renal agenesis, Male infertility, Horseshoe kidney, Abnormal heart morphology, Abnormal renal mor... |
OMIM:227650 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... |
OMIM:609152 |
| Cantú Syndrome |
|
Cardiomegaly, Osteoporosis, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepatosplenomegaly... |
ORPHA:731 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Failure to thrive, Decreased serum leptin, Nail dystrophy, Sparse eyela... |
OMIM:614008 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta |
OMIM:617022 |
| Developmental And Epileptic Encephalopathy 95 |
|
Inappropriate laughter, Multiple joint contractures, Joint hypermobility, Cardiomegaly, Hepatomeg... |
OMIM:618143 |
| Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Joint contracture of the hand, Arthrogryposis multiplex ... |
OMIM:602398 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
| Pmm2-Cdg |
|
Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Vomiting, Failure to thrive, Increased cir... |
ORPHA:79318 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Patchy osteosclerosis, Hypoplasia of penis, Congenital hypoparathyroidism |
ORPHA:2323 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:167 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Abnormality of the kidney, Par... |
ORPHA:805 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, Pa... |
ORPHA:189427 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Atrial septal def... |
ORPHA:79330 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly,... |
OMIM:608013 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect... |
ORPHA:2209 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Ventricular septal defect, Attention deficit hyperactivity disorder, Hyp... |
OMIM:614294 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia... |
ORPHA:77293 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Hepatomegaly |
OMIM:612301 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Gastroesophageal reflux, Horizontal eyebrow, Camptodactyly of finger, Abnormality of... |
OMIM:607872 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
| Tetrasomy 9P |
|
Umbilical hernia, Abnormal dental enamel morphology, Infertility, Polymicrogyria, Pachygyria, Abs... |
ORPHA:3310 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Small scrotum, Fixated interests, Umbilical hernia, Hypocalcemia, Hair-p... |
OMIM:620330 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Glucose intolerance, Hypertriglyceridemia |
OMIM:619127 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Pancreatic islet cell adenoma, Adrenal pheochromocytoma... |
ORPHA:892 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:619259 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... |
ORPHA:99819 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy |
ORPHA:158687 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Splenomegal... |
OMIM:312870 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia |
OMIM:619573 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia |
ORPHA:254346 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Osteopetrosis, Hepatomegaly, Craniosynostosis,... |
ORPHA:667 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... |
ORPHA:424 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:308552 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia, Delayed puberty, Cholelithiasis |
ORPHA:2072 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, I... |
OMIM:256040 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Joint hypermobility, Cardiomega... |
ORPHA:96191 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardio... |
ORPHA:95430 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Secondary hyperparathyroidism, Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithi... |
ORPHA:2785 |
| Fucosidosis |
|
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Flexion contracture, Glycopeptiduria |
OMIM:230000 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Hydroureter, Ureteral stenosis, Sclerosis of skull base, Hydrone... |
OMIM:269150 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenome... |
OMIM:219700 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Cranial hyperostosis, Neoplasm of the thymus, Joint stiffness, Hy... |
ORPHA:744 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:365 |
| X-Linked Intellectual Disability, Snyder Type |
|
Abnormality of the Leydig cells, Cryptorchidism, Camptodactyly, Hypospadias, Testicular atrophy |
ORPHA:3063 |
| Bohring-Opitz Syndrome |
|
Limitation of joint mobility, Urinary retention, Congenital contracture, Nephroblastoma, Cardiome... |
ORPHA:97297 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
| Sclerosteosis 1 |
|
Irregular menstruation, Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy sec... |
OMIM:269500 |
| Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia |
ORPHA:1830 |
| Histiocytoid Cardiomyopathy |
|
Hypoglycemia, Ventricular septal defect, Cardiomegaly, Renal cyst, Hepatomegaly |
ORPHA:137675 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Abnormal heart morphology, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Cystic Fibrosis |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Male i... |
ORPHA:586 |
| Abetalipoproteinemia |
|
Hepatomegaly, Osteopenia, Hypothyroidism, Cardiomegaly |
ORPHA:14 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Hypot... |
ORPHA:51 |
| Floating-Harbor Syndrome |
|
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias |
OMIM:136140 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Osteomalacia, Adrenal calci... |
ORPHA:51608 |
| Wiedemann-Rautenstrauch Syndrome |
|
Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:3455 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Finger joint hypermobility, Tracheomalacia, Patent foramen ovale |
OMIM:620371 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias |
ORPHA:2044 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Leukocyte Adhesion Deficiency |
|
Vaginitis, Recurrent aphthous stomatitis, Nail dystrophy, Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... |
ORPHA:3472 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthritis, Hepatomegaly |
OMIM:620376 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Osteopenia, Cardiomegaly, Osteolytic defects o... |
OMIM:182250 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Fabry Disease |
|
Hyperlipidemia, Abnormal circulating lipid concentration |
ORPHA:324 |
