Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... |
OMIM:301101 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
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 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 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... |
OMIM:612526 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... |
OMIM:614837 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Azoospermia,... |
OMIM:614897 |
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 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Reduced resp... |
OMIM:616030 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
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 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
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 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
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 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
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 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketot... |
ORPHA:293964 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth retardation,... |
ORPHA:453533 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... |
OMIM:620651 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Intrauterine growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, ... |
OMIM:619761 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... |
OMIM:620438 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Ciliary Dyskinesia, Primary, 50 |
|
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein ... |
OMIM:620356 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... |
ORPHA:52901 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... |
ORPHA:79237 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility |
ORPHA:3000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
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 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
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 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
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 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 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato... |
OMIM:278000 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Abn... |
ORPHA:399805 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ... |
ORPHA:528 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent skin infections, Splenome... |
OMIM:300635 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... |
ORPHA:324575 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... |
ORPHA:446 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Growth delay, Decreased thyroid-stimulating hormone level, Decreased... |
ORPHA:226307 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... |
ORPHA:163976 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... |
OMIM:231100 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... |
OMIM:615812 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... |
OMIM:618086 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... |
OMIM:308230 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Reduced social reciprocity, Micropenis, Increased serum ... |
ORPHA:8 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... |
OMIM:616222 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis |
OMIM:618449 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ... |
OMIM:617872 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hepatic stea... |
ORPHA:412 |
Lead Poisoning |
|
Decreased male libido, Increased circulating IgE level, Decreased circulating osteocalcin level, ... |
ORPHA:330015 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... |
OMIM:202150 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... |
ORPHA:247598 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:619048 |
Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... |
ORPHA:247585 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... |
ORPHA:2495 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:309120 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... |
ORPHA:2137 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... |
ORPHA:562 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... |
ORPHA:99429 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormality of the menstrual ... |
ORPHA:905 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:35 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Recurrent pneumonia, Splenomegaly, Disproportionate short-trunk short stature, Reduce... |
OMIM:602271 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co... |
ORPHA:33110 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Septic arthritis, Panhypogammaglobulinemia, Decreased response to growth hormone stimu... |
OMIM:307200 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... |
OMIM:619436 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Male hypogonadism, Type I diabetes mellitus, Cholelithiasis, Chronic mucocuta... |
OMIM:240300 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... |
OMIM:232400 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... |
OMIM:248370 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism, Hepatomegaly |
ORPHA:848 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusiti... |
ORPHA:47 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Chroni... |
OMIM:612650 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
46,Xy Partial Gonadal Dysgenesis |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... |
ORPHA:251510 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy... |
ORPHA:183675 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal circulating en... |
ORPHA:79239 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... |
ORPHA:90797 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g... |
ORPHA:96184 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat... |
ORPHA:2394 |
Hemochromatosis, Type 2A |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Hepat... |
OMIM:602390 |
Mody |
|
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... |
ORPHA:552 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:617950 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Delayed early-childhood social milestone development |
ORPHA:363523 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Decreased s... |
OMIM:618985 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... |
OMIM:614921 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... |
ORPHA:66628 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia |
ORPHA:664 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... |
ORPHA:179494 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Biliary tract abno... |
OMIM:209920 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Hypogonadism, Type II diabetes mellitus, Elevated circulating fo... |
OMIM:602668 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... |
OMIM:612649 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Decr... |
ORPHA:381 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... |
OMIM:612885 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... |
OMIM:300755 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... |
OMIM:615207 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Jaundice, Fasting hypoglycemia |
OMIM:201400 |
Ciliary Dyskinesia, Primary, 34 |
|
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central microtubular pair morpholog... |
OMIM:617091 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Aplasia/Hypoplasia o... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Graves disease, Apla... |
ORPHA:227982 |
Melioidosis |
|
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Abnormality of the spleen... |
ORPHA:31202 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Hepatitis, Decreased circulating IgA level, Hypersplenism, Portal hyper... |
OMIM:613385 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... |
OMIM:261680 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Infertility, Rhinitis, Bronc... |
OMIM:615500 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Cheilitis, Growth delay, Decreased circulating IgA le... |
ORPHA:125 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Hypo... |
OMIM:304790 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Pyelonephritis, Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... |
ORPHA:1163 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Recurrent otitis media, Abdominal situs ambiguus, Recurrent sinusitis, Immotile... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron... |
OMIM:612444 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur... |
OMIM:618549 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Hypersplenism, Increased circulating antibody level, Increased c... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Decreased serum testosterone concentration, Absence of pubertal development, A... |
ORPHA:432 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Bronchiectasis, Recurrent sinusitis, Chronic otitis media, Male infertility |
OMIM:300991 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Chronic mucocutaneous candidiasis, Lac... |
ORPHA:572 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... |
ORPHA:2552 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... |
ORPHA:199299 |
Smith-Magenis Syndrome |
|
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
Congenital Isolated Acth Deficiency |
|
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased circulating cortisol le... |
ORPHA:199296 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... |
ORPHA:39812 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Decreased serum testosterone concentration, Decreased testicular size, ... |
OMIM:201100 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Periodontitis, Central adrenal insufficiency, Cryptorchidism... |
ORPHA:739 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... |
ORPHA:2088 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
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 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Abnormal vagina morphology, Skin rash, Dyspareunia, Cheilitis |
ORPHA:1334 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Pancreatic hypo... |
OMIM:610199 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98754 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... |
ORPHA:60 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Hypogonadism, Hepatosplenomegaly, Hepatomegaly, Oligozoospermia, Abnorm... |
ORPHA:85450 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Bronchiectasis, Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... |
ORPHA:156 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... |
OMIM:607594 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myoc... |
ORPHA:549 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98793 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Q Fever |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... |
ORPHA:781 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177904 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... |
OMIM:208085 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... |
ORPHA:294 |
Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... |
ORPHA:158061 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177901 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Severe postnatal growth r... |
ORPHA:440713 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Apla... |
ORPHA:83471 |
Infantile Liver Failure Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... |
OMIM:616483 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... |
OMIM:606721 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Trichohepatoenteric Syndrome 2 |
|
Intrauterine growth retardation, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis |
OMIM:614602 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:5 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynei... |
OMIM:615444 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intrauterine growth retardation, Psoriasiform dermatitis, Interface hepatitis, Agammaglobulinemia... |
OMIM:243150 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Po... |
ORPHA:228426 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... |
ORPHA:79259 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le... |
OMIM:620565 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Decreased liver function |
OMIM:238970 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... |
OMIM:613808 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatic failure, Decreased circulating antibody level, Splenomeg... |
OMIM:308240 |
Alstrom Syndrome |
|
Irregular menstruation, Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase... |
OMIM:203800 |
Gaisböck Syndrome |
|
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... |
ORPHA:90041 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Growth delay, Hypopituitarism, Adrenal insufficiency, Hepatosplenomegaly, Hyper... |
ORPHA:231226 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Micro... |
ORPHA:1772 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96263 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... |
ORPHA:36234 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficiency, Primary... |
OMIM:269200 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Reduced sperm... |
OMIM:608647 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Avian Influenza |
|
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... |
ORPHA:454836 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... |
ORPHA:90674 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... |
OMIM:201450 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Spondyloenchondrodysplasia |
|
Pneumonia, Hepatitis, Decreased response to growth hormone stimulation test, Skin rash, Dispropor... |
ORPHA:1855 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Abnormality of the male genitalia, Abnormality of the spleen, Morbillifo... |
ORPHA:228123 |
Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Monoclonal ... |
ORPHA:91139 |
Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Acute pancreatitis, Hepatitis, Increased circulating antibody level |
ORPHA:319218 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Recurrent otitis media,... |
ORPHA:244 |
Congenital Enterovirus Infection |
|
Hepatic failure, Hepatitis, Cholestasis, Skin rash, Infectious encephalitis, Myocarditis |
ORPHA:292 |
Bloom Syndrome |
|
Decreased circulating IgG level, Postnatal growth retardation, Decreased circulating IgA level, A... |
OMIM:210900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated gamma-glutamyltransferase level, Abnormal cortical gyration, Inflammation of the large i... |
OMIM:614576 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... |
OMIM:210250 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Postnatal growth retardation, Decreased testicu... |
OMIM:616113 |
Hsd10 Disease |
|
Postnatal growth retardation, Abnormal social behavior |
ORPHA:391417 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased circ... |
ORPHA:48435 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Intrauterine growth retardation, Hep... |
OMIM:615846 |
Gapo Syndrome |
|
Hypogonadism, Dysmenorrhea, Amenorrhea, Oligozoospermia, Short stature, Growth delay |
ORPHA:2067 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia, Male infertility |
OMIM:618948 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Anoperineal fistula, Decrea... |
OMIM:619381 |
Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... |
ORPHA:319251 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Primary adrenal insufficiency, Hashimoto thyroiditis, Myositis, ... |
ORPHA:589 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... |
OMIM:615453 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
OMIM:614736 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir... |
ORPHA:277 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... |
ORPHA:91138 |
Prader-Willi Syndrome |
|
Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity... |
OMIM:176270 |
Primary Sjögren Syndrome |
|
Arteritis, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Increased circulating antibody... |
ORPHA:289390 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mu... |
ORPHA:391487 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Obesity, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia |
OMIM:619471 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Cryptorchidism, Femal... |
ORPHA:91 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Bronchiectasis, Reduced sperm motility |
OMIM:615434 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglyc... |
OMIM:251110 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms, Rhinitis, Bronch... |
OMIM:614935 |
Zygomycosis |
|
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... |
ORPHA:73263 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
46,Xx Sex Reversal 1 |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro... |
OMIM:400045 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... |
OMIM:118450 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Growth delay, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Clitoral hypoplasia |
OMIM:614813 |
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 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Chronic sinusitis, Chronic otitis media, Polysplenia |
OMIM:619608 |
Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232200 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Incr... |
ORPHA:355 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Psorias... |
ORPHA:436252 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Hypospadias, Impaired T cell function, Allergic conjunctivitis, Chordee, Delay... |
OMIM:176690 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... |
ORPHA:3464 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... |
ORPHA:728 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating hepatic transaminase concentration, Abnormality of alkaline pho... |
OMIM:137920 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Alström Syndrome |
|
Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra... |
ORPHA:64 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis |
ORPHA:83597 |
Tetrasomy 9P |
|
Inappropriate behavior, Polymicrogyria, Intrauterine growth retardation, Absent gallbladder, Cryp... |
ORPHA:3310 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Prolonged G2 phase of cell cycle, Short stature, Hypergonadotro... |
OMIM:227650 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis, Male infertility |
OMIM:619607 |
Wilson Disease |
|
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Abnormality of... |
ORPHA:2237 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Fai... |
OMIM:276700 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Glycosu... |
OMIM:229600 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Elevated circulatin... |
ORPHA:3260 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Intrauterine growth retardation, Cryptorchidism, Prolonged G2 phase ... |
OMIM:227645 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Male infertility, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otitis media,... |
OMIM:244400 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pyelonephritis, Hepatic cysts, Reduced sperm motility, Pan... |
ORPHA:730 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... |
OMIM:619534 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Cryptorchidism, Prolonged G2 phase of cell cycle, ... |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:600901 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Failure to thrive, Umbilical hernia, Hyperaldosteronism, Abnormal dent... |
ORPHA:534 |
Kawasaki Disease |
|
Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Arthritis, Myocarditis, Jaundice, Cheilitis,... |
ORPHA:2331 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Abnormal social behavior |
ORPHA:530983 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... |
OMIM:309000 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Cryptorchidism, Short stature, Hypospadias, Abnormal social behavior |
ORPHA:93932 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype... |
ORPHA:273 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, External ... |
ORPHA:177907 |
Occipital Horn Syndrome |
|
Cholestasis, Jaundice, Esophagitis, Hepatitis |
ORPHA:198 |
Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis |
OMIM:215600 |
Leptospirosis |
|
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He... |
ORPHA:509 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, A... |
OMIM:613179 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... |
OMIM:219700 |
Digeorge Syndrome |
|
Acne, Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Impaired T cell function, Recu... |
OMIM:188400 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Short stature, Cryptorchidism, Impaired T cell function |
OMIM:192430 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Eczematoid dermatitis, Decreased response to growth hormone stimulation test,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Eczematoid dermatitis, Decreased response to growth hormone stimulation test,... |
ORPHA:363958 |
Lujo Hemorrhagic Fever |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:319213 |
Cystic Fibrosis |
|
Elevated circulating hepatic transaminase concentration, Absent vas deferens, Exocrine pancreatic... |
ORPHA:586 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
Noonan Syndrome 1 |
|
Hypogonadism, Postnatal growth retardation, Cryptorchidism, Synovitis, Short stature, Hypospadias... |
OMIM:163950 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... |
OMIM:301000 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis, Abnormal social behavior |
ORPHA:309256 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis, Abnormal social behavior |
ORPHA:309263 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormal salivary gland morphology, Abnormality of T cell ph... |
OMIM:181000 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Cholecystitis, Abnormal social behavior |
ORPHA:309271 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Growth delay, Exocrine pancreatic insufficiency, Splenomegaly, Primary hypothy... |
OMIM:219800 |
Mend Syndrome |
|
Short stature, Cryptorchidism, Abnormal social behavior |
ORPHA:401973 |
Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, ... |
ORPHA:904 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Niemann-Pick Disease Type C |
|
Hepatic failure, Aspiration pneumonia, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly... |
ORPHA:646 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Pheochromocytoma, Hepatic cysts, Parathyroid hyperplasia, Carcinoid tumor, Par... |
ORPHA:805 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Abnormal social behavior |
ORPHA:1675 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Abnormal social behavior |
ORPHA:314647 |