| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Thrombocytopenia, Hepatomegaly, ... |
OMIM:133180 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... |
OMIM:607685 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance |
OMIM:311100 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Abnormality of the liver |
DECIPHER:47 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, L... |
OMIM:614470 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:219050 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... |
OMIM:153600 |
| Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
| Glioma Susceptibility 9 |
|
Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung |
OMIM:616568 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... |
OMIM:614840 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr... |
ORPHA:231401 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Preaxial Hallucal Polydactyly |
|
Diabetes mellitus |
OMIM:601759 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia |
OMIM:247640 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss, B-cell lymphoma |
ORPHA:52416 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Myelodysplasia |
OMIM:162830 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Hepatocellular carcinoma, Acute lymphoblastic leukemia, H... |
ORPHA:158057 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... |
OMIM:612158 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
| Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
| Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... |
ORPHA:181393 |
| Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Granulo... |
ORPHA:75564 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Abnormal circulating insulin concent... |
ORPHA:552 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:614676 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:612201 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Lymphoma, Leukopenia, Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Refrac... |
OMIM:616871 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613876 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Increa... |
OMIM:619041 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin resistance, Polycystic ovaries, Insulin-resistant diabetes m... |
ORPHA:90301 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Aplastic anemia, Leukemia |
OMIM:614743 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia |
OMIM:252270 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Leukocytosis, Multiple linea... |
ORPHA:98827 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Erythro... |
ORPHA:86841 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Weight loss, Abnormal morphology of the chordae tendinae of the mitra... |
ORPHA:75566 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegal... |
ORPHA:3226 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613874 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adip... |
ORPHA:79085 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Myelodysplasia, Pancytopenia, Leukemia, Verrucae |
OMIM:614038 |
| 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 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Faci... |
OMIM:616435 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Splen... |
OMIM:612526 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Breast carcinoma, Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly, B-cell lymp... |
ORPHA:86893 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
| Fanconi Anemia, Complementation Group D1 |
|
Failure to thrive, Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblasti... |
OMIM:605724 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
| Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:146110 |
| Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Secundum atrial septal defect, Anemia |
OMIM:223350 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatic steatosis, Failure to thrive, Hepa... |
OMIM:619048 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma |
OMIM:142330 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Mast Cell Sarcoma |
|
Weight loss, Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, S... |
ORPHA:66661 |
| Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Left ventricular hypertrophy, Noncompaction cardiomyopathy, Left ventr... |
OMIM:604169 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... |
ORPHA:753 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis |
OMIM:246470 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly, Perianal abscess, B-cell lymphoma |
OMIM:619437 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| N Syndrome |
|
Neoplasm, Leukemia |
OMIM:310465 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased ... |
ORPHA:98850 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Myelodysplasia, Failure to thrive, Bone marrow hypoce... |
OMIM:619151 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... |
OMIM:619824 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
| Cutaneous Neuroendocrine Carcinoma |
|
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... |
ORPHA:79140 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Immunodeficiency 21 |
|
Anemia, Myeloid leukemia, Reduced natural killer cell count, Monocytopenia, B lymphocytopenia, My... |
OMIM:614172 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Failure to thrive, Left ventricular hypertrophy |
OMIM:616974 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... |
OMIM:618963 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance |
OMIM:610947 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... |
OMIM:615285 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... |
ORPHA:261519 |
| Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Acute lymphoblastic leukemia, Myelodysplasia |
OMIM:610738 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Elbow flexion contracture, Left ventricular hypertrophy, EMG: myopathic... |
OMIM:619040 |
| Developmental And Epileptic Encephalopathy 109 |
|
Failure to thrive, Left ventricular hypertrophy |
OMIM:620145 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance |
OMIM:144600 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Meningioma, Ventricular septal defect, Leukemia |
OMIM:602501 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... |
ORPHA:324575 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Acute leukemia, Splenomegaly, Myelodysplasia |
ORPHA:3318 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613251 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Abnormal dense ... |
OMIM:601399 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... |
OMIM:608971 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Left ventricular hypertrophy |
OMIM:616733 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
| Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... |
OMIM:276300 |
| Hodgkin Lymphoma |
|
Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Weight loss, Myelodysplasia, Thrombocytosis, Splenomegaly, Chronic myelog... |
ORPHA:71493 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:300845 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Cirrhosis, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, M... |
OMIM:614742 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Hypertrophic card... |
OMIM:608751 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Tendon rupture, Cardiac amyloid... |
ORPHA:85451 |
| Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... |
OMIM:264300 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Lymphopenia, Hemangioma, Eo... |
ORPHA:486 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
| Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Prolactinoma, Pituitary adenoma, Pituitary prolactin cell adenoma, ... |
OMIM:102200 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Hypertro... |
OMIM:615418 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Hepatomegaly, Distal amyotrophy, Splenomegaly |
OMIM:205400 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly, B-cell lymphoma |
OMIM:619164 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers |
OMIM:540000 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adip... |
ORPHA:435660 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... |
OMIM:613156 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Delayed ... |
OMIM:615363 |
| Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
| Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Left atrial enlargement, Right ventricular dilatation |
OMIM:614022 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Lymphoproliferative disorder, ... |
ORPHA:90033 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Myelodysplasia |
ORPHA:721 |
| Follicular Lymphoma |
|
Lymphoma, Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopath... |
ORPHA:545 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocyto... |
ORPHA:514 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... |
ORPHA:10 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Asymmetric septal hypertrophy |
OMIM:613838 |
| Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Thymoma |
|
Neoplasm of the gastrointestinal tract, Weight loss, Pure red cell aplasia, Neoplasm of head and ... |
ORPHA:99867 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune throm... |
OMIM:300853 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Weight loss, Left ventricular hypertrophy, Noncompac... |
ORPHA:3208 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... |
ORPHA:293964 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Failure to thrive, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog... |
ORPHA:846 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Diabetes melli... |
ORPHA:79083 |
| Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Delayed pube... |
ORPHA:411590 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Left ventricular hypertrophy, Large for gestational age, Atrial septal... |
OMIM:615355 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... |
ORPHA:90970 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect... |
OMIM:620135 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis |
OMIM:613873 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Hepatic steatosis, Diabetes mellitus, Male hypogonadism, Hepatomegaly, Crypto... |
OMIM:615381 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, En... |
ORPHA:2298 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... |
ORPHA:276556 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Aplasia of the uterus, Elev... |
OMIM:273250 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy |
OMIM:614654 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... |
OMIM:618534 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Failure... |
ORPHA:858 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Myelodysplasia, Small for gestational age, Pancytopenia, Persiste... |
OMIM:260400 |
| Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Sandhoff Disease |
|
Failure to thrive, Splenomegaly, Hepatomegaly |
ORPHA:796 |
| Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... |
OMIM:617253 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... |
ORPHA:2232 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... |
ORPHA:169186 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
| Galactosemia Iii |
|
Failure to thrive, Jaundice, Splenomegaly, Hepatomegaly |
OMIM:230350 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Failure... |
ORPHA:444013 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:615085 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis... |
ORPHA:528 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepat... |
ORPHA:2348 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
| X-Linked Intellectual Disability, Hedera Type |
|
Hypomimic face, Obesity, Left ventricular hypertrophy |
ORPHA:93952 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... |
ORPHA:79086 |
| Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Asymmetric septal hypertrophy, Ventric... |
OMIM:608758 |
| 46,Xx Sex Reversal 4 |
|
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... |
OMIM:617480 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... |
ORPHA:79456 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Polycythemia Vera |
|
Weight loss, Myelodysplasia, Hepatomegaly, Portal vein thrombosis, Portal hypertension, Acute leu... |
ORPHA:729 |
| Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:167800 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Abnormal ... |
ORPHA:86839 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... |
ORPHA:1772 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... |
ORPHA:361 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... |
OMIM:606069 |
| Cln3 Disease |
|
Left ventricular hypertrophy, Vacuolated lymphocytes |
ORPHA:228346 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
| Mastocytosis |
|
Sarcoma, Mastocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
| Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hepatic fibrosis, Hemolytic anemia, Weight loss, Pericardial effusion, Left ventricular h... |
OMIM:619487 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Facial papilloma, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopen... |
OMIM:619220 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Large for ... |
OMIM:239850 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
| 46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Lig4 Syndrome |
|
Lymphoma, Pancytopenia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Acute leukemia |
ORPHA:99812 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Myelodysplasia |
OMIM:185050 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Failure to th... |
ORPHA:79301 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Abnormal heart morphology, Th... |
OMIM:600901 |
| Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt... |
OMIM:209950 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus |
OMIM:210740 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
| 48,Xxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of pe... |
ORPHA:96263 |
| Tangier Disease |
|
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Facial dipleg... |
ORPHA:31150 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Anemia, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypoinsulinemia, Recurrent hy... |
ORPHA:2126 |
| Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Pyoderma Gangrenosum |
|
Myositis, Myeloid leukemia, Myelodysplasia |
ORPHA:48104 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive, Increased variability in muscle fib... |
OMIM:614096 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Ventricular septal defect, Reticulocytopenia, Small for gestational ... |
OMIM:227645 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... |
ORPHA:811 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Abnormal heart morphology, Th... |
OMIM:227650 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance |
ORPHA:75563 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Left ventricular noncompaction |
OMIM:617228 |
| Classic Hodgkin Lymphoma |
|
Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepatomegaly, Sple... |
ORPHA:391 |
| Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... |
OMIM:619975 |
| 49,Xxxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of pe... |
ORPHA:96264 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Lymphoproliferative Syndrome 2 |
|
Lymphoma, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Lymphoproliferative disorder, Hemoph... |
OMIM:615122 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Failure to thrive, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly,... |
OMIM:615387 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Primary Myelofibrosis |
|
Anemia, Cachexia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hemangioma, Poi... |
ORPHA:824 |
| Peripartum Cardiomyopathy |
|
Anemia, Abnormal atrioventricular valve morphology, Left ventricular hypertrophy, Dilated cardiom... |
ORPHA:563 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogonadotropic hypogonadism, Ab... |
ORPHA:251066 |
| Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia |
ORPHA:281090 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... |
ORPHA:300298 |
| Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Pituitary prolactin cell adenoma, Pitu... |
ORPHA:99725 |
| Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus |
ORPHA:676 |
| Waldenström Macroglobulinemia |
|
Lymphoma, Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly,... |
ORPHA:33226 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... |
OMIM:615559 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Decreased testicular size, Type II diabetes mellitus, Polycystic ovaries, Hyper... |
ORPHA:3085 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Subaortic ventricular septal bulge, Left ventricular hypertrophy, At... |
OMIM:612098 |
| Classic Mycosis Fungoides |
|
Lymphoma, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cell lymphoma, Splenom... |
ORPHA:2584 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Lymphadenopathy, Lymphoproliferative disord... |
OMIM:609981 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Sick Sinus Syndrome 2 |
|
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction |
OMIM:163800 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:619868 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Cryptorchidism |
OMIM:214150 |
| Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism, Abnormal testis morphology |
ORPHA:791 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Breast carcinoma, Sterile abscess, Anemia, Chronic lymphatic leukemia, Ne... |
ORPHA:3243 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Failure to thrive, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatom... |
OMIM:618495 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmonic stenosis |
OMIM:613224 |
| Pfapa Syndrome |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
| Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Hematologi... |
ORPHA:98848 |
| Schnitzler Syndrome |
|
Lymphoma, Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Cryptorchidism |
ORPHA:2849 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Hepatomegaly, Eosinophilia, Impaired oxid... |
OMIM:226990 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Failure to thrive, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegal... |
ORPHA:79312 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... |
ORPHA:769 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... |
ORPHA:99818 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Diffuse hepatic steatosis, Left ve... |
ORPHA:746 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Failure to thrive, Facia... |
ORPHA:308552 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy |
ORPHA:85447 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insul... |
ORPHA:435651 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance, Hypogonadism |
ORPHA:73272 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:620010 |
| Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal... |
ORPHA:79330 |
| Elliptocytosis 1 |
|
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly |
OMIM:611804 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyp... |
ORPHA:263455 |
| Tatton-Brown-Rahman Syndrome |
|
Obesity, Neuroendocrine neoplasm, Atrial septal defect, Myeloid leukemia |
ORPHA:404443 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Portal fibrosis, Myelodysplasia, Neutrophilia, Pancreatitis, Dilated cardiomyopathy, Gene... |
ORPHA:3260 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Limb muscle weakness, Abnormal erythrocyte enzyme level, Ankle flexion contracture, Myeloprolifer... |
ORPHA:100924 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated ... |
OMIM:256550 |
| Cirrhotic Cardiomyopathy |
|
Cirrhosis, Jaundice, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiom... |
ORPHA:57777 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Left ventricular hypertrophy, Camptodactyly, Cholesteatoma, Giant platelets, Thrombocytop... |
OMIM:611209 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
| Ataxia-Telangiectasia |
|
Lymphoma, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia,... |
OMIM:208900 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Osteosarcoma, Thrombocytopenia, Normochromic anemia, Abno... |
ORPHA:124 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance |
OMIM:309620 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Ovarian cyst, Glucose int... |
OMIM:269880 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Lymphadenopathy, Follicular hyperplasia, Neoplasm, Hepatomegaly, Splenomegaly |
OMIM:240500 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Dysplastic aortic valve, Left ventricular hypertrophy, Aortic... |
ORPHA:3093 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, H... |
ORPHA:507 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Secundum atrial septal defect, Leukemia, Myelodysplasia |
OMIM:619951 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Increased muscle glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Gaucher Disease Type 2 |
|
Flexion contracture, Splenomegaly, Hepatomegaly |
ORPHA:77260 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Hepatomegaly, Extramedullary hematopo... |
OMIM:612840 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating nucleated red blood cells,... |
OMIM:613673 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatic bridging fibrosis, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... |
ORPHA:615 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
| Caspase 8 Deficiency |
|
Failure to thrive, Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Leukocytosis |
ORPHA:90065 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... |
OMIM:224120 |
| Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... |
ORPHA:848 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Burkitt lymphoma, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Th... |
OMIM:308240 |
| Noonan Syndrome 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Leukemia, Mitral stenosis, Atrial septa... |
OMIM:605275 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud... |
ORPHA:91 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Left ventricular hypertrophy |
ORPHA:320 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Insulin resistance, Hepatic steatosis, Decreased serum leptin, Diabetes mellitus, D... |
ORPHA:280365 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Abnormal heart morphology, Bo... |
OMIM:227646 |
| Sickle Cell Disease |
|
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Increased red cell ... |
OMIM:603903 |
| Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
| Sézary Syndrome |
|
Lymphoma, Neoplasm of the skin, Lymphadenopathy, Skeletal muscle atrophy, Hepatomegaly, Cutaneous... |
ORPHA:3162 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... |
OMIM:603554 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cholestatic liver disease, ... |
OMIM:616828 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Failure to ... |
OMIM:601847 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame... |
OMIM:615474 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Silver-Russell Syndrome |
|
Hyperhidrosis, Precocious puberty, Decreased testicular size, Insulin resistance, Recurrent hypog... |
ORPHA:813 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:611490 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequat... |
OMIM:612714 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
| Omenn Syndrome |
|
Lymphoma, Anemia, Failure to thrive, Lymphadenopathy, Hepatomegaly, Eosinophilia, Leukocytosis, S... |
ORPHA:39041 |
| Mucolipidosis Type Ii |
|
Knee flexion contracture, Patent foramen ovale, Diastasis recti, Hip contracture, Abnormal mitral... |
ORPHA:576 |
| H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Diabetes mellitus, Delayed puberty, Micrope... |
ORPHA:168569 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Pericarditis, Viral hepatitis, Abnorma... |
ORPHA:91139 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular septal defect, Small for g... |
OMIM:606003 |
| Wolman Disease |
|
Anemia, Cachexia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
| Fabry Disease |
|
Anemia, Left ventricular hypertrophy, Ventricular septal hypertrophy |
OMIM:301500 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
| Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Left ventricular hypertrophy, Dilated cardiomyopathy, Atrial septa... |
OMIM:242840 |
| Rothmund-Thomson Syndrome Type 1 |
|
Anemia, Myelodysplasia, Small for gestational age, Calcinosis, Squamous cell carcinoma, Melanoma,... |
ORPHA:221008 |
| Rothmund-Thomson Syndrome |
|
Anemia, Myelodysplasia, Small for gestational age, Calcinosis, Squamous cell carcinoma, Melanoma,... |
ORPHA:2909 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Small for gestational age, Hypertrophic cardiomyopathy, Failure to thrive, ... |
OMIM:614702 |
| Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia |
OMIM:180200 |
| Wilson Disease |
|
Anemia, Cirrhosis, Proximal muscle weakness in lower limbs, Weight loss, Hepatitis, Jaundice, Hep... |
ORPHA:905 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Leukemia, Small for gestational age, Embryonal rhabdomyosarcoma, Atrial septal de... |
OMIM:257300 |
| Short Syndrome |
|
Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
| Amyloidosis, Familial Visceral |
|
Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:105200 |
| Rothmund-Thomson Syndrome Type 2 |
|
Lymphoma, Anemia, Myelodysplasia, Small for gestational age, Calcinosis, Squamous cell carcinoma,... |
ORPHA:221016 |
| Nijmegen Breakage Syndrome |
|
Lymphoma, Hemolytic anemia, Glioma, Rhabdomyosarcoma, Cachexia, Autoimmune hemolytic anemia, Neop... |
ORPHA:647 |
| Donohue Syndrome |
|
Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, ... |
OMIM:246200 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly |
OMIM:300635 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc... |
ORPHA:300373 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Bone marrow hypocellularity, Exocrine pa... |
OMIM:617052 |
| Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphad... |
ORPHA:100026 |
| Cardiac Diverticulum |
|
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Diastasis recti, Ventri... |
ORPHA:1686 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... |
OMIM:619463 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
| Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hypert... |
OMIM:616028 |
| Bloom Syndrome |
|
Nephroblastoma, Acute myeloid leukemia, Lymphoma, Stomach cancer, Myelodysplasia, Small for gesta... |
ORPHA:125 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypertrophy |
OMIM:619698 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly |
OMIM:619064 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Dec... |
OMIM:212140 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Chronic hemolytic anemia, Decreased hemoglobin ... |
OMIM:266200 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Prolonged neonatal jaundice, Failure to thrive, Lymphadenopathy, Skeletal... |
OMIM:257200 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:613327 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... |
ORPHA:790 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
| Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... |
ORPHA:1414 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Cardiomyopathy |
OMIM:619046 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Felty Syndrome |
|
Lymphoma, Anemia, Weight loss, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepato... |
ORPHA:47612 |
| Cronkhite-Canada Syndrome |
|
Stomach cancer, Anemia, Gastrointestinal carcinoma, Cachexia, Intestinal polyposis, Colon cancer,... |
ORPHA:2930 |
| Werner Syndrome |
|
Thyroid carcinoma, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Insulin r... |
ORPHA:902 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Left ventricular hypertrophy, Tendon rupture, Atrial septal defect, Abnorm... |
ORPHA:230851 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small for gestational age, Camptodactyly, Left ventricular hypertrophy, Pulmonic stenosis, Small ... |
OMIM:619148 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
| Autoimmune Hemolytic Anemia |
|
Lymphoma, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Pancytopenia |
OMIM:618321 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatosplenomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatomegaly |
ORPHA:79237 |
| Whipple Disease |
|
Hypothyroidism, Insulin resistance, Splenomegaly, Hepatomegaly |
ORPHA:3452 |
| Congenital Factor Xiii Deficiency |
|
Intramuscular hematoma, Myeloid leukemia |
ORPHA:331 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Portal hypertension |
ORPHA:79319 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Hepatosplenomegaly, Failure to thrive, Juvenile myelomonocytic leukemia, A... |
OMIM:613563 |
| Bloom Syndrome |
|
Decreased fertility in females, Type II diabetes mellitus, Azoospermia, Cryptorchidism |
OMIM:210900 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Insulin resistance |
ORPHA:96168 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Failure to thrive... |
ORPHA:289 |
| Farber Lipogranulomatosis |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
| Legius Syndrome |
|
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Mitra... |
ORPHA:137605 |
| Cholesteryl Ester Storage Disease |
|
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly |
ORPHA:75234 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Thrombocytopenia, Spl... |
OMIM:616050 |
| Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly, Ascites, Failure to thrive in... |
ORPHA:834 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Abnormality of the liver, Shoulder girdle muscle weakness, Left ventricular hypertrophy, Dilated ... |
ORPHA:254892 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Multiple myeloma, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Throm... |
OMIM:230800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... |
ORPHA:91351 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Failure to thrive, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Flexion contracture, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Skeletal muscle atro... |
OMIM:619183 |
| Down Syndrome |
|
Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Obesity, Macroglossia |
ORPHA:870 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... |
ORPHA:465508 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
| Wiskott-Aldrich Syndrome |
|
Lymphoma, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lym... |
ORPHA:906 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Small for gestational age, Abnormal tri... |
ORPHA:555874 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Insulin resistance, Diabetes mellitus, Cryptorchidism |
OMIM:616541 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ... |
OMIM:616564 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Macrovesicular hepatic steatosis, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:235555 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Acute lymphoblastic leukemia, Large for... |
OMIM:280000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Elbow flexion contracture, Le... |
OMIM:245600 |
| Fetal Gaucher Disease |
|
Flexion contracture, Pancytopenia, Arthrogryposis multiplex congenita, Thrombocytopenia, Hepatome... |
ORPHA:85212 |
| Down Syndrome |
|
Atrioventricular canal defect, Double outlet right ventricle, Patent foramen ovale, Ventricular s... |
OMIM:190685 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Nephroblastoma, Stomach cancer, Myelodysplasia, Muscular dystrophy, ... |
ORPHA:1052 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Flexion contracture, Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
ORPHA:365 |
| Majeed Syndrome |
|
Flexion contracture, Weight loss, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Hep... |
ORPHA:77297 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Increased sarcoplasmic glycogen, Rhabdo... |
ORPHA:370 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi... |
OMIM:211600 |
| Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Breast aplasia |
ORPHA:90153 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Insulin resi... |
OMIM:209900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy |
OMIM:619355 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:56425 |
| Mulibrey Nanism |
|
Nephroblastoma, Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites |
OMIM:253250 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Noonan Syndrome 3 |
|
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp... |
OMIM:609942 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Insulin resistance |
ORPHA:90154 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... |
OMIM:618935 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
| Adult-Onset Still Disease |
|
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ... |
ORPHA:829 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hyperhidrosis, Precocious puberty, Decreased response to growth hormone stimulation test, Insulin... |
ORPHA:96182 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left ventricular hypertrophy, Failure to thrive, Left atrial enlargement, Right ventricular dilat... |
ORPHA:99106 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Laryngeal papilloma, Failure to thrive, Autoimmune hemolytic anemia, Hepatomeg... |
OMIM:617388 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Gitelman Syndrome |
|
Hyperhidrosis, Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of... |
ORPHA:358 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Lymphopenia, Myositis, Failure to thrive, Lymphadenopathy, Hepatomeg... |
OMIM:617591 |
| Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
| Cryptococcosis |
|
Cirrhosis, Lymphoid leukemia, Neoplasm, Mediastinal lymphadenopathy, Peritonitis, Limb muscle wea... |
ORPHA:1546 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
| Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... |
ORPHA:381 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Failure to thrive, Giant cell hepa... |
OMIM:607765 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Myopathy, Neoplasm, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged ovaries, Insulin resistanc... |
ORPHA:508 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Hepatic steatosis, Myopathy, Skeletal muscle atrophy, Hepatomega... |
ORPHA:42 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
| Neurofibromatosis Type 1 |
|
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... |
ORPHA:636 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
| 17Q11 Microdeletion Syndrome |
|
Myelodysplasia, Plexiform neurofibroma, Hypertrophic cardiomyopathy, Multiple mucosal neuromas, G... |
ORPHA:97685 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Splenomegaly, Cirrhosis, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, Auto... |
ORPHA:77293 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peri... |
ORPHA:131 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Elevated hepatic ... |
ORPHA:231222 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphoma, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopeni... |
OMIM:613179 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin... |
ORPHA:231226 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Cranioectodermal Dysplasia 2 |
|
Patent foramen ovale, Biliary cirrhosis, Polysplenia, Left ventricular hypertrophy, Atrial septal... |
OMIM:613610 |
| Laubry-Pezzi Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Subarterial ventricular septal defect, Perimembr... |
ORPHA:99094 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility |
ORPHA:85450 |
| Aicardi-Goutières Syndrome |
|
Chronic lymphatic leukemia, Multiple joint contractures, Hepatosplenomegaly, Myositis, Hypertroph... |
ORPHA:51 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin... |
ORPHA:3261 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... |
OMIM:151660 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Aortic valve atresia, Aortopulmonary window, Truncus arteriosus, V... |
ORPHA:2299 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Type I... |
OMIM:602782 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
| Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
| Common Variable Immunodeficiency |
|
Lymphoma, Abnormality of the liver, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, L... |
ORPHA:1572 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... |
ORPHA:231214 |
| Rubinstein-Taybi Syndrome 1 |
|
Patent foramen ovale, Flexion contracture, Ventricular septal defect, Perimembranous ventricular ... |
OMIM:180849 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... |
OMIM:613812 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoma, Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Auto... |
OMIM:614700 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Neoplasm, Myeloproliferative disorder, Obesity, Right ventricular dilatation, Right atrial enlarg... |
ORPHA:70591 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
| Alstrom Syndrome |
|
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... |
OMIM:203800 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Failure to thrive, Lymphadenopat... |
OMIM:615895 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Atrial septal defect, Hepatosplenomegaly, Situs inversus tot... |
OMIM:267010 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Splenomegaly, Pancytopenia, Decreased basophil count |
OMIM:618394 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o... |
ORPHA:77259 |
| Autosomal Dominant Cerebellar Ataxia |
|
Azoospermia |
ORPHA:99 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Failure to thrive, Hepatomegaly, Facial paralysis, Thrombocytopenia, Spleno... |
OMIM:259700 |
| Fanconi Anemia |
|
Abnormal preputium morphology, Abnormal testis morphology, Hypogonadism, Bicornuate uterus, Decre... |
ORPHA:84 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
| Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Acute leukemia, Tetralogy of Fallot, Transpos... |
ORPHA:3474 |
| Danon Disease |
|
Generalized amyotrophy, Dilated cardiomyopathy, Myocardial fibrosis, EMG: myopathic abnormalities... |
OMIM:300257 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Cirrhosis, Oropharyngeal squamous cell carcinoma, Mye... |
OMIM:305000 |
| Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Failure to thrive, Chronic hemolytic anemia, Chole... |
OMIM:615512 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss, Splenomegaly, Hepatomegaly |
ORPHA:33577 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Hepatomegaly, Splenomegaly, Acanthocytosis, Car... |
OMIM:300842 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly |
OMIM:602579 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... |
ORPHA:158061 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Severe B lymphocy... |
OMIM:102700 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly |
OMIM:613027 |
| Fabry Disease |
|
Anemia, Abnormal aortic valve morphology, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
ORPHA:324 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Decreased body weight, Ascites, Arthrogryposis multiplex congenita, Hepatosplenomegaly, H... |
OMIM:608013 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy, Anemia, Hepatic fibrosis, Cirrhosis, Abnormal erythrocyte enzyme level, Portal fi... |
ORPHA:264580 |
| Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Weight loss,... |
ORPHA:53035 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Failure to thri... |
OMIM:308230 |
| Diphallia |
|
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... |
ORPHA:227 |
| American Trypanosomiasis |
|
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy |
ORPHA:3386 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Pulmonic stenosis, Secundum atria... |
OMIM:612541 |
| Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Anemia, Increased variability in muscle fiber diameter, Normocytic anemia... |
OMIM:611881 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Distal Monosomy 12Q |
|
Patent foramen ovale, Biliary atresia, Congenital hypertrophy of left ventricle, Elbow flexion co... |
ORPHA:96149 |
| Schinzel-Giedion Syndrome |
|
Nephroblastoma, Myeloid leukemia, Ependymoma, Camptodactyly, Macroglossia, Hepatoblastoma, Terato... |
ORPHA:798 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cyst, Paraganglioma, Pap... |
OMIM:193300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Lymphadenopath... |
OMIM:603553 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Jaundice, Failure to thrive, Lymphadenopathy, Hemophagocytosis, Hepatomegaly,... |
OMIM:267700 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Pancreatitis, Abnormality of the calf musculature, A... |
ORPHA:565612 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Hepatic steatosis,... |
OMIM:201475 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the tricuspid valve, Left ven... |
ORPHA:466791 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, D... |
OMIM:608594 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... |
ORPHA:64744 |
| Q Fever |
|
Endocarditis, Anemia, Abnormality of the liver, Weight loss, Pericardial effusion, Granuloma, Hep... |
ORPHA:781 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Patent foramen ovale, Flexion contracture, Left ventricular hypertrophy, Macrovesicular hepatic s... |
OMIM:619127 |
| Kaposiform Lymphangiomatosis |
|
Papilloma, Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morph... |
ORPHA:464329 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Lower limb muscle weakness, Calf muscle hypertrophy, Muscular edema, Scapular winging, Proximal m... |
ORPHA:268 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Lymphoma, Leukemia, Atrial septal defect |
ORPHA:2526 |
| Dubowitz Syndrome |
|
Lymphoma, Anemia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Neoplasm, Thrombocyto... |
ORPHA:235 |
| Fucosidosis |
|
Decreased muscle mass, Abnormality of the gallbladder, Failure to thrive, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Rhabdomyolysis, Hepatocellular ... |
ORPHA:79240 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Foot ... |
OMIM:214500 |
| Poland Syndrome |
|
Abnormality of the liver, Aplasia of the pectoralis major muscle, Retinal hamartoma, Atrial septa... |
ORPHA:2911 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Ventricular septal defect, Abnormality of ... |
ORPHA:84064 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
| Refsum Disease, Classic |
|
Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:266500 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Ventricular septal defect, Small for gestational age, Hypertrophic cardiomyo... |
OMIM:616897 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... |
OMIM:251880 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Acholic... |
ORPHA:30391 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... |
OMIM:606721 |
| Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Amegakaryocytic thrombocytopenia, Atrial septal defect, Hypertrophic c... |
OMIM:163950 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Cirrhosis, Microvesicular hepatic steatosis, Ventricular septal defect, Polysplenia, Macr... |
OMIM:619418 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:207750 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Ventricular septal defe... |
OMIM:617022 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Abscess |
OMIM:612852 |
| Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Reticulocytosis, Episodic hemolytic anemia, Chronic hemolytic anemia, Gia... |
OMIM:210250 |
| Fucosidosis |
|
Flexion contracture, Macroglossia, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly |
OMIM:230000 |
| Glycogen Storage Disease Ii |
|
Firm muscles, Macroglossia, Hepatomegaly, Increased muscle glycogen content, Cardiomegaly, Limb m... |
OMIM:232300 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomeg... |
OMIM:616084 |
| Complete Atrioventricular Septal Defect |
|
Failure to thrive, Primum atrial septal defect, Displacement of the papillary muscles, Complete a... |
ORPHA:1329 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules |
OMIM:139090 |
| Dubowitz Syndrome |
|
Lymphoma, Aplastic anemia, Neuroblastoma, Acute lymphoblastic leukemia |
OMIM:223370 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Mitral atresia, Aortic valve atresia, Microvesicular hepatic steatosis, Small for gestational age... |
OMIM:220111 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:239200 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Failure to thrive, Hepatomegaly, Pancreatitis |
OMIM:615947 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Fontaine Progeroid Syndrome |
|
Small for gestational age, Bicuspid aortic valve, Left ventricular hypertrophy, Atrial septal def... |
OMIM:612289 |
| Familial Tumoral Calcinosis |
|
Calcification of muscles, Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pan... |
ORPHA:48818 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Dilated cardiomyopathy, Pancytopenia, Hepatosplenomegaly, Lymphopenia, Lympha... |
OMIM:615688 |
| Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, Normocytic anemia, Hepatic ... |
OMIM:300972 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Small for gestational age, Jaundice, Hepatic st... |
ORPHA:567983 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Renal angiomyolipoma, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocyto... |
OMIM:260920 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hepatomegaly, ... |
OMIM:248370 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Large for gestational age... |
ORPHA:363705 |
| Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Large intestinal polyposis, Hepatoblastoma, Hypertrophic cardiomyopathy, Neoplasm... |
ORPHA:116 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Diabetes insipidus, Hyperaldosteronism, Azoospermia, Hyperparathyroidism, Delayed puberty, Crypto... |
ORPHA:534 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... |
OMIM:233710 |
| Primary Sclerosing Cholangitis |
|
Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hep... |
ORPHA:171 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Splenomegaly, Anemia, Pericardial effusion, Pancytopenia, Thrombocyto... |
ORPHA:77261 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Pancreatitis, Failure to thrive, Hemophagocytosis, Skeletal muscle atrophy, H... |
OMIM:222700 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Brucellosis |
|
Endocarditis, Leukopenia, Anemia, Abnormality of the liver, Weight loss, Small for gestational ag... |
ORPHA:1304 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Thrombocy... |
ORPHA:2968 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... |
OMIM:233690 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Eunuchoid habitus, Small hypothenar eminence, Abnormality of the t... |
ORPHA:2463 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Tyrosinemia, Type I |
|
Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Hypertrophic cardiomyopathy, Failur... |
OMIM:276700 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Rhabdomyolysis, Hepatitis, Dilated cardiomyopathy, Intrahepatic choles... |
OMIM:614921 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:619259 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Azoospermia, Cholelithiasis |
ORPHA:2072 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Enlarged kidney, Elbow flexion contracture, Dilated cardiomyopathy, Hep... |
OMIM:608836 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Gonadoblastoma, Diastasis recti, Pancreatic hyperplasia, Adrenocortical carcinoma... |
OMIM:130650 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Cachexia,... |
ORPHA:75565 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Macroglossia, Hypertrophic cardiomyopathy, Biventricular h... |
OMIM:261740 |
| Abetalipoproteinemia |
|
Anemia, Hepatic fibrosis, Cirrhosis, Reticulocytosis, Hepatic steatosis, Failure to thrive, Myopa... |
ORPHA:14 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... |
ORPHA:892 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Neutropenia, Weight loss, Lymphocytosis, Gene... |
ORPHA:50918 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatom... |
OMIM:306400 |
| Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Enlarged kidney, Camptodactyly, Macroglossia, Arthrogryposis multiplex congenita... |
OMIM:252500 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Abnormal heart morphology, Left ventricular hypertrophy, Pulmonic stenosis |
ORPHA:284984 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Medulloblastoma, Abnormal cardiac septum morphology, Congenital contracture, Bila... |
ORPHA:97297 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
| Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
| Sotos Syndrome |
|
Bilateral camptodactyly, Astrocytoma, Flexion contracture, Ventricular septal defect, Hip contrac... |
ORPHA:821 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:613795 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Acute myelomonocytic leukemia, Multiple joint contractures, Subarterial ventricular septal defect... |
ORPHA:99646 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Pubertal developmental failure in females, Insulin resistance, Decreased ser... |
ORPHA:740 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Portal inflammation, Cholesteatoma, Hepatic steatosis, Hepatomegaly,... |
OMIM:619991 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy |
ORPHA:158687 |
| Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Cholangitis, Abnormality of the ... |
ORPHA:449432 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Flexion contracture of toe, Elbow flexion contractu... |
OMIM:256040 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Abnormality of the hepatic vasculature, Cardiomegaly, Rig... |
ORPHA:1677 |
| Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Adenoidi... |
ORPHA:581 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Hepatic calcification, Hepatomegaly, Cardiomegaly, Abnormal myocardium morphol... |
ORPHA:228308 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Macroglossia, Hepatomegaly, Cardiomegaly, Arthrogryposis multiplex c... |
OMIM:618143 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Failure to thrive, Abnormal he... |
ORPHA:95430 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
| Alström Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Decreased circulating T4 concentration, Hepatomegaly, Sple... |
ORPHA:64 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Glycosuria, Type II diabetes mellitus... |
ORPHA:79474 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Splenomegaly, Hepatomegaly |
OMIM:612132 |
| Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cryptorchidism, Gl... |
OMIM:136140 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Myocardial steatosis |
OMIM:228100 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Failure to thrive, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Ogden Syndrome |
|
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... |
OMIM:300855 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele... |
ORPHA:2044 |
| Pmm2-Cdg |
|
Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hepatic fibrosis, Hyperinsulinemia, Biliary cirrhosis, Cirrhosis... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High urinary gonadotropin level, Hepatic fibrosis, Hyperinsulinemia, Biliary cirrhosis, Cirrhosis... |
ORPHA:99228 |
| Monosomy X |
|
High urinary gonadotropin level, Hepatic fibrosis, Hyperinsulinemia, Biliary cirrhosis, Cirrhosis... |
ORPHA:99226 |
| Turner Syndrome |
|
High urinary gonadotropin level, Hepatic fibrosis, Hyperinsulinemia, Biliary cirrhosis, Cirrhosis... |
ORPHA:881 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Macroglossia |
ORPHA:96191 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Diabetes mellitus, Delayed puberty, Male infertility, Primary hypothyroidism |
OMIM:219800 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Decreased body weight, Muscle fiber atrophy, Tendon rupture, Aortic ... |
OMIM:182250 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Severe failure to thrive, Cardiomegaly, Tetralog... |
ORPHA:3472 |
| Williams Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... |
ORPHA:904 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Pericardial effusion, Myocardial calcification... |
ORPHA:51608 |
| Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis |
ORPHA:391665 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
