Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
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 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility |
OMIM:619145 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... |
ORPHA:52901 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Smal... |
ORPHA:1916 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia |
ORPHA:2274 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
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 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Irritability, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res... |
ORPHA:324575 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... |
ORPHA:276580 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... |
ORPHA:320391 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hepatom... |
ORPHA:276575 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia |
OMIM:602079 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Agitation, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperi... |
ORPHA:276608 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... |
ORPHA:983 |
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 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... |
OMIM:146110 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... |
ORPHA:753 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperi... |
ORPHA:35878 |
Insulinoma |
|
Polyphagia, Pituitary prolactin cell adenoma, Anxiety, Fasting hyperinsulinemia, Recurrent hypogl... |
ORPHA:97279 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Hartnup Disorder |
|
Emotional lability, Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity di... |
OMIM:234500 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... |
ORPHA:263458 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperglycemia, Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, Hepat... |
ORPHA:276556 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Irritability, Impulsivity, Lethargy, Aggressive behavior, Hyperglyci... |
OMIM:605899 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypo... |
ORPHA:179494 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Insulin resis... |
ORPHA:79084 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Decreased circulating follicle... |
OMIM:308750 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency, Anxiety, Attention deficit hyperactivity disorder, Bradykinesia |
OMIM:618878 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to gr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to gr... |
ORPHA:71526 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... |
ORPHA:752 |
Obesity And Hypopigmentation |
|
Polyphagia, Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Leydig Cell Hypoplasia |
|
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Hydroxyprolinuria, Prolinuria, Aggressive behavior, Hyperglycinuria |
OMIM:239500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Gait ataxia, Hepatic steatosis,... |
ORPHA:363400 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Hypoglycemic seizures, Hyperinsulinemia, Elevated circu... |
OMIM:620211 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Proteinuria, Neonatal hypoglycemia, Glycosuria, Agitation, Renal Fanconi sy... |
ORPHA:263455 |
46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... |
OMIM:273250 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Pandas |
|
Enuresis, Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Claustrophobia... |
ORPHA:66624 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice |
OMIM:206400 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Hepatomegaly, Abnormal calcium-phosphate regulating hormone lev... |
ORPHA:417 |
Coproporphyria, Hereditary |
|
Jaundice, Increased urinary porphobilinogen, Anxiety, Hepatomegaly, Elevated urinary delta-aminol... |
OMIM:121300 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:66628 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia |
ORPHA:369873 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Abnormal circulating hormone concentration... |
ORPHA:280356 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis, Irritability, Splenomegaly |
OMIM:612126 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Hyperlysinuria |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc... |
ORPHA:552 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi... |
ORPHA:2585 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Phenylketonuria |
|
Increased level of hippuric acid in urine, Self-mutilation, Hyperactivity, Anxiety, Attention def... |
OMIM:261600 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ... |
OMIM:616030 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Hyperinsul... |
OMIM:262190 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Hypoplasia of penis |
ORPHA:2849 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Hyperactivity, Ataxia, Irritability, Bradykinesia, Gait ataxia, De... |
ORPHA:248111 |
Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Agitation |
OMIM:309548 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:277180 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Agitation |
ORPHA:100973 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis |
ORPHA:791 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased lev... |
ORPHA:79237 |
Bdv Syndrome |
|
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Micrope... |
OMIM:619326 |
Landau-Kleffner Syndrome |
|
Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord... |
ORPHA:98818 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Personality disorder, Hyperactivity, Falls |
ORPHA:2382 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... |
ORPHA:3077 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:609425 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Ataxia, Anxiety, Self-injurio... |
OMIM:271980 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Lead Poisoning |
|
Abnormal sperm morphology, Delayed puberty, Small for gestational age, Decreased male libido, Dec... |
ORPHA:330015 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Cirrhosis, Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Hepatic... |
OMIM:604367 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Goiter, Graves disease, Hyperactivity, Abnormal abdomen morphology, Irritability, Inc... |
OMIM:275000 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
Gaucher Disease, Type Iii |
|
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly |
OMIM:231000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin-resistant diab... |
ORPHA:2298 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity |
OMIM:617113 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... |
ORPHA:79644 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath... |
ORPHA:100024 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria |
ORPHA:882 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity, Hypothyroidism |
OMIM:619927 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Hyperactivity, Self-injurious behavior, Nephrolithiasis, Aggressive behavior, ... |
OMIM:620023 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Choreoathetosis, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Letha... |
ORPHA:79312 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegal... |
OMIM:271500 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Bangstad Syndrome |
|
Ataxia, Increased circulating cortisol level, Primary gonadal insufficiency, Abnormality of the p... |
ORPHA:1227 |
Babesiosis |
|
Jaundice, Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Depr... |
ORPHA:108 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... |
OMIM:615559 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Donohue Syndrome |
|
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,... |
OMIM:246200 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Lymphangiectasis, Proximal tubulopathy, Hy... |
OMIM:602579 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
X-Linked Adrenoleukodystrophy |
|
Increased circulating ACTH level, Gait disturbance, Hyperactivity, Neurogenic bladder, Disinhibit... |
ORPHA:43 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... |
OMIM:616860 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior |
OMIM:619467 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Irritability, Microcytic anemia, Hepatitis, Thrombocyt... |
ORPHA:848 |
Pediatric-Onset Graves Disease |
|
Emotional lability, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Polyphagia, G... |
ORPHA:525731 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Microcytic ... |
OMIM:257200 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... |
OMIM:619375 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly |
OMIM:105200 |
Mast Cell Sarcoma |
|
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... |
ORPHA:465508 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Atelis Syndrome 2 |
|
Anemia, Anxiety, Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating... |
OMIM:620185 |
Immunodeficiency 76 |
|
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Hyperactivity, Hepatomegaly, Cardiomegaly, Aggressive behavio... |
OMIM:252920 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... |
ORPHA:99886 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:612716 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Self-mutilation, Aggressive behavior, Hyperactivity |
OMIM:615516 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Anxiety, Reduction of neutrophil motility |
OMIM:266265 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Reticulocytosis, Splenomegaly |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Hyperactivity, Broad-based gait, Precocious puberty |
ORPHA:457260 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Splenomegaly, Lethargy, Hypogonadotropic hypogonadism |
OMIM:602390 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hepa... |
ORPHA:528 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Happy demeanor, Broad-based gait |
ORPHA:411515 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Wilson Disease |
|
Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, A... |
ORPHA:905 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... |
ORPHA:785 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Chronic active hepatitis, Multinodular goiter, Renal insufficiency,... |
OMIM:203800 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Fasting hyperinsulinemia, Myoglobinuria, Hypoglycemic seizures, Dicarboxyl... |
ORPHA:71212 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splen... |
OMIM:612526 |
Mpi-Cdg |
|
Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Hemochromatosis, Type 2B |
|
Hypogonadism, Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly, Anemia |
ORPHA:75563 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... |
OMIM:615363 |
X-Linked Acrogigantism |
|
Polyphagia, Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, ... |
ORPHA:300373 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Impulsivity |
ORPHA:500180 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg... |
OMIM:616217 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... |
OMIM:301078 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Ataxia, Hypogonadism, Hepatomegaly, Irritability, Lethargy, Splenomegaly, Dec... |
OMIM:201100 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... |
OMIM:226990 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... |
OMIM:150550 |
Cln5 Disease |
|
Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Aggressive ... |
ORPHA:228360 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... |
ORPHA:3226 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Polyphagia, Diabetes mellitus, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Nep... |
OMIM:608594 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hyperinsulinemia, Dysphagia, Hepatic steatosis, Insulin resistance, Splenomegaly |
OMIM:613327 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Hypothyr... |
ORPHA:231222 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity |
OMIM:301013 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Aminoaciduria |
ORPHA:664 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Polyphagia, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Nephrolithiasis, Decre... |
OMIM:269700 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
Harderoporphyria |
|
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... |
OMIM:618892 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Hepatomegal... |
OMIM:619644 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Nephrocalci... |
ORPHA:769 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior, Imp... |
OMIM:620141 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
Acquired Generalized Lipodystrophy |
|
Proteinuria, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Acute pancreatitis, Hepatic steatosis, In... |
ORPHA:79086 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content |
OMIM:261750 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Ataxia, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bacterici... |
OMIM:613470 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism |
OMIM:222300 |
Farber Lipogranulomatosis |
|
Lipogranulomatosis, Hepatomegaly, Splenomegaly, Irritability |
OMIM:228000 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocytopenia, Lymphaden... |
OMIM:308240 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Prader-Willi Syndrome |
|
Polyphagia, Delayed puberty, Micropenis, Attention deficit hyperactivity disorder, Decreased resp... |
OMIM:176270 |
Griscelli Syndrome |
|
Jaundice, Leukopenia, Ataxia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomega... |
ORPHA:381 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Hyperinsulinemia, Elevated urinary dopamine, Insulin resistance, Nocturia, Hypoglycemia |
ORPHA:230 |
Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Citrullinemia Type Ii |
|
Enuresis, Hepatocellular carcinoma, Abnormal eating behavior, Hyperactivity, Restlessness, Pancre... |
ORPHA:247585 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Anxiety, Attention deficit hyperactivity disorder, Hyperthyroid... |
ORPHA:449291 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, G... |
OMIM:618935 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Renal potassium wasting, Self-biting, P... |
OMIM:618314 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... |
OMIM:613673 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... |
OMIM:616689 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Bicornuate u... |
OMIM:137920 |
Omenn Syndrome |
|
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Nephrotic syndrome, Eosinophi... |
ORPHA:39041 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration,... |
ORPHA:453533 |
Dominant Beta-Thalassemia |
|
Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Hypot... |
ORPHA:231226 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi... |
ORPHA:2137 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Stage 5 chronic kidney disease, Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-res... |
OMIM:608612 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... |
OMIM:278000 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Aggressive behavior, Hyperactivity, Decreased ... |
ORPHA:85327 |
Beta-Thalassemia Major |
|
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroi... |
ORPHA:231214 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Elevated hepa... |
OMIM:615234 |
Familial Renal Glucosuria |
|
Enuresis, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance... |
ORPHA:69076 |
Steinert Myotonic Dystrophy |
|
Inability to walk, Diabetes mellitus, Hyperinsulinemia, Cholelithiasis, Male hypogonadism, Decrea... |
ORPHA:273 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Lymphopenia, Irritability |
ORPHA:391307 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Leukopenia, Alcoholism, Diabetes mellitus, Increased circulating procalcitonin conc... |
ORPHA:36238 |
Wolman Disease |
|
Bone-marrow foam cells, Anemia, Adrenal calcification, Hepatomegaly, Adrenal insufficiency, Splen... |
ORPHA:75233 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Self-mutilation, Hyperactivity, Ataxia, Hepatomegaly, Skin-picking, Low frustration tolerance, Ag... |
ORPHA:163681 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
ORPHA:2457 |
Argininemia |
|
Oroticaciduria, Diaminoaciduria, Hyperactivity, Cholestasis, Hepatomegaly, Irritability, Portal f... |
OMIM:207800 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Hypoglycemi... |
OMIM:613027 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Tenorio Syndrome |
|
Enuresis, Emotional lability, Gait disturbance, Anxiety, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia |
OMIM:616589 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... |
OMIM:193300 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis... |
OMIM:257220 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... |
OMIM:617394 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Anxiety, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypoglycemia |
OMIM:617600 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritab... |
OMIM:603553 |
Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Nephrocalcinosis, Enlarged kidney, Central hypothyroidi... |
ORPHA:508 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritability, Thrombocytope... |
OMIM:267700 |
Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... |
OMIM:603903 |
Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Jaundice, Gait disturbance, Leukopenia, Hemophagocytosis, Anemia, Atax... |
OMIM:214500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... |
OMIM:300908 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... |
OMIM:235700 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,... |
ORPHA:54251 |
Mcleod Syndrome |
|
Personality disorder, Anxiety, Hepatomegaly, Acanthocytosis, Depression, Splenomegaly |
OMIM:300842 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia,... |
ORPHA:760 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
Adult-Onset Still Disease |
|
Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Hepatitis, ... |
ORPHA:829 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Biliary cirrhosis, Stage 5 chronic kidney disease, Enlarged kidney, ... |
OMIM:208540 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II diabetes mellitus, Hep... |
OMIM:151660 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Hyperactivity, Hepatomegaly, Splenomegaly |
OMIM:252900 |
Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... |
OMIM:603554 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalciuria, Polydipsia,... |
OMIM:239200 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular fil... |
OMIM:232220 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Emotional lability, Hyperactivity, Dysdiadochokinesis, Dysphagia, Bradykinesia, Gait ataxia, Dysm... |
OMIM:610217 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... |
OMIM:224120 |
Liver Disease, Severe Congenital |
|
Peritonitis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Elevated hepatic iron concentration, In... |
OMIM:619991 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Insulin-resistant diab... |
OMIM:248370 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia... |
ORPHA:228123 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Micropenis, Hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:3464 |
Spherocytosis, Type 2 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Cholestatic liver disease, Hashimoto thyroiditis, Horseshoe kidney, Ectopic kidn... |
ORPHA:99226 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Pitt-Hopkins-Like Syndrome 1 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:610042 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Diabetes mellitus, H... |
OMIM:610199 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity, Ataxia |
OMIM:620047 |
Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... |
ORPHA:822 |
Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... |
ORPHA:53035 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Relapsing Fever |
|
Jaundice, Acute kidney injury, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Hematuria, Neu... |
ORPHA:91547 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Delayed puberty, Neoplasm of the liver, Ataxia, Autoimmune thrombocytopenia, Bipolar affective di... |
ORPHA:77293 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Ataxia, Sideroblastic anemia, B lymphocytopenia, Aminoaciduria, Hypochromic mic... |
OMIM:616084 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Reticulocytosis, Lymphopenia, ... |
ORPHA:3261 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Leukopenia, Ataxia, Anemia, Agitation, Hashimoto thyroiditis, B... |
OMIM:615688 |
Niemann-Pick Disease, Type C2 |
|
Jaundice, Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue his... |
OMIM:607625 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... |
OMIM:185000 |
Solitary Fibrous Tumor |
|
Abnormality of the peritoneum, Urinary retention, Neoplasm of the liver, Recurrent hypoglycemia, ... |
ORPHA:2126 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... |
ORPHA:86843 |
Tuberous Sclerosis Complex |
|
Polycystic kidney dysplasia, Depression, Hepatic cysts, Chronic kidney disease, Renal angiomyolip... |
ORPHA:805 |
Pearson Syndrome |
|
Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroidism, Lacticaciduria, Proteinuria,... |
ORPHA:699 |
Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Abnormal natural killer cell count, Thrombocytope... |
ORPHA:158048 |
Von Hippel-Lindau Disease |
|
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... |
ORPHA:892 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... |
ORPHA:2442 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... |
ORPHA:171 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis, Lymphadenopathy, Elevated ... |
OMIM:260920 |
Hereditary Elliptocytosis |
|
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... |
ORPHA:288 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Anemia, Abnormality of the ureter, Aminoaciduria, Splenomegaly, Orotic acid cryst... |
ORPHA:30 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis, Alcoholism |
ORPHA:1930 |
Atypical Werner Syndrome |
|
Neoplasm of the thyroid gland, Delayed puberty, Glycosuria, Hypogonadism, Diabetes mellitus, Abno... |
ORPHA:79474 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |
Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
Niemann-Pick Disease Type C |
|
Hepatosplenomegaly, Jaundice, Gait disturbance, Apathy, Ataxia, Bone-marrow foam cells, Abnormali... |
ORPHA:646 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Reduced renal cort... |
ORPHA:731 |
Hardikar Syndrome |
|
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Intrahepatic bile duct dilat... |
OMIM:301068 |
Choreoacanthocytosis |
|