Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 65 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619712 |
Spermatogenic Failure 54 |
|
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... |
OMIM:619379 |
Spermatogenic Failure 56 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619515 |
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 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 39 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618643 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... |
OMIM:301059 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:620196 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... |
OMIM:619177 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 7 |
|
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... |
OMIM:618433 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Isochromosomy Yp |
|
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia |
ORPHA:98797 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... |
ORPHA:98798 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia |
OMIM:620103 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility |
OMIM:108420 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... |
ORPHA:399805 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Oligospermia |
OMIM:615703 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... |
ORPHA:320391 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Testicular atrophy, Primary... |
ORPHA:52901 |
Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Male infertility |
OMIM:615842 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia |
OMIM:229070 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased... |
OMIM:620010 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bilirubin,... |
OMIM:619868 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... |
OMIM:237800 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia |
ORPHA:2274 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased testicular size, Primary amen... |
OMIM:612885 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism |
OMIM:602390 |
Adrenal Hypoplasia, Congenital |
|
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty |
OMIM:300200 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms |
OMIM:614874 |
47,Xyy Syndrome |
|
Cryptorchidism, Micropenis, Varicocele, Azoospermia, Male infertility, Macroorchidism, Oligosperm... |
ORPHA:8 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly |
OMIM:619874 |
Malaria |
|
Anemia, Hyperbilirubinemia, Gait imbalance, Thrombocytopenia, Elevated circulating C-reactive pro... |
ORPHA:673 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... |
ORPHA:158057 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Ci... |
OMIM:235200 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:614837 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Unconjugated hy... |
ORPHA:79234 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Hyperbilirubinemia, Increased serum bile acid concentra... |
OMIM:616278 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Conjugated hyperbilirubinemia, Cirrho... |
OMIM:214900 |
Rotor Syndrome |
|
Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Testicular mic... |
OMIM:228300 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
OMIM:604765 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly, ... |
OMIM:269920 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hypothyro... |
OMIM:613673 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... |
OMIM:267700 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... |
OMIM:619256 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia, Patent ductus arteriosus |
OMIM:618300 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased female libido, Infertility, Abnormality of the menstrual ... |
ORPHA:91348 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia |
OMIM:237500 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Azoospermia |
OMIM:614897 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligomenorrhea, Oligospermia, Amenorrhea, Hypogonadism |
ORPHA:91351 |
Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatome... |
OMIM:613313 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous ge... |
ORPHA:261519 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Erectile dysfunction, Hypothyroidism, Decreased ... |
ORPHA:465508 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Atretic gallbladder, Bile duct proliferation, Hepato... |
OMIM:210500 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Atrial septal defect, Attention deficit hyperactivity disorder, Increased C-pepti... |
OMIM:620211 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Adrenal hypoplasia, Cholestasis, Decreased circulating cortisol level, Decreased resp... |
OMIM:609734 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Absent inner and outer dynein arms |
OMIM:615444 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Lead Poisoning |
|
Abnormal sperm morphology, Reduced sperm motility, Decreased male libido, Decreased female libido... |
ORPHA:330015 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Kennedy Disease |
|
Abnormal circulating lipid concentration, Testicular atrophy, Gait disturbance, Decreased fertili... |
ORPHA:481 |
Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepa... |
OMIM:603553 |
Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Micropenis, Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Cl... |
ORPHA:90797 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia, Increased... |
OMIM:232700 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... |
ORPHA:754 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Cholestasis, Hypermethioninemia, Elevated circu... |
OMIM:614300 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism |
OMIM:602668 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Intrahepatic cholestasis, Hypertyrosinemia, Hyperthreoninemia, Hypermethion... |
OMIM:605814 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Neonatal insulin-dependent diabetes ... |
ORPHA:1667 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He... |
ORPHA:400 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Hyperbilirubinemia, Aggressive behavior... |
OMIM:619075 |
Distal Xq28 Microduplication Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Tip-toe gait, Aggressive behavior, Patent fora... |
ORPHA:293939 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Hepatomegaly, Ascites, Increased total bilirubin |
ORPHA:890 |
Classic Galactosemia |
|
Oligomenorrhea, Delayed puberty, Decreased fertility in females, Cryptorchidism, Premature ovaria... |
ORPHA:79239 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... |
ORPHA:247598 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased circulati... |
OMIM:618892 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatomegaly, Splenomegaly, Hypertrigl... |
OMIM:612526 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Cholecystitis, Normochromic ane... |
OMIM:235700 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... |
ORPHA:822 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Intrahepatic cholestasis, Irritability, Hyperbilirubinemia, Increased serum bile acid concentrati... |
OMIM:619685 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Decreased testicular size, Hypergonadotropic hypogonadism |
ORPHA:280679 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Ambiguous genitalia, Infertility, Female pseudohermaphroditism, Oligospermia, Pre... |
ORPHA:786 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, Ovotestis, Bicornuate uterus, True hermaphroditism, Sex revers... |
OMIM:400045 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased... |
OMIM:618838 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hep... |
OMIM:266200 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, Ataxia, Choreoathetosis, Irritabili... |
OMIM:612126 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Ascites, Increased total bilirubin |
OMIM:174050 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop... |
OMIM:620135 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Delayed puberty, Hepatic fibrosis, Hepatomegaly, Irritability, Cirrhosi... |
ORPHA:369 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... |
OMIM:613812 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... |
OMIM:182900 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Periportal fibrosis... |
OMIM:251880 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Restrictive cardiomyopathy, Endocardial fibroelastosis, Ante... |
ORPHA:2022 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, Cir... |
OMIM:607765 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, I... |
ORPHA:263458 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Attention deficit hyperactivity disorder, Insulin resistance, Neonat... |
ORPHA:73272 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Elevated circulating alpha-fetoprotein concentration, Cholestasis, Bile duct proliferat... |
OMIM:619662 |
Carnitine Deficiency, Systemic Primary |
|
Hyperammonemia, Decreased carnitine level in liver, Cardiomyopathy, Recurrent hypoglycemia, Hepat... |
OMIM:212140 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... |
OMIM:243300 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Azoospermia, Small scr... |
OMIM:308700 |
Glycogen Storage Disease Iii |
|
Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kinase concentratio... |
OMIM:232400 |
49,Xyyyy Syndrome |
|
Decreased testicular size, External genital hypoplasia, Abnormality of the testis size, Azoosperm... |
ORPHA:99330 |
Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... |
ORPHA:232 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Irritability, Splenomegaly, Microcytic anemia, Hepatit... |
ORPHA:848 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... |
ORPHA:2137 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Primary amenorrhe... |
ORPHA:432 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Extramedullary hematopoiesis, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonata... |
ORPHA:79303 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Cholestatic liver disease, Glycosuria, Ventricular septal defect, Nephrogenic diabetes ... |
OMIM:613404 |
Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:143500 |
Hereditary Elliptocytosis |
|
Jaundice, Reticulocytosis, Elliptocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Pro... |
ORPHA:288 |
Liver Failure, Infantile, Transient |
|
Jaundice, Hepatomegaly, Irritability, Hyperbilirubinemia, Microvesicular hepatic steatosis, Macro... |
OMIM:613070 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Increased total... |
OMIM:618528 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Conjugated hyperbilirubi... |
OMIM:211600 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Dysphagia, Elevated circulating creatine kinase concentr... |
OMIM:313200 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Hypoplasia of penis, Type II diabetes mellit... |
ORPHA:181393 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:251510 |
Spherocytosis, Type 2 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... |
OMIM:616649 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Jaundice, Cholestasis, Bile duct proliferation, Cirrhosis, Hyperbilirubinemia |
ORPHA:79302 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia |
ORPHA:85450 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Agitation, Hypertrophic cardiomyopathy, Hypoglycemia, Aggressive behavior, Choreoat... |
OMIM:300438 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Increased circulating prolactin concentration, Attention deficit hyperactivity disorder, ... |
ORPHA:90674 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hyperalaninemia, Hepatomegaly, Irrita... |
ORPHA:348 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugat... |
OMIM:601847 |
Glycogen Storage Disease Xii |
|
Delayed puberty, Reduced haptoglobin level, Jaundice, Normocytic anemia, Anemia, Hepatomegaly, El... |
OMIM:611881 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hyperactivity, Hepatomegaly, Cardiomegaly, Aggressive behavior, Sp... |
OMIM:252920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia, Ataxia, Agitation, Cardiomyopathy, Hyperalaninemia, Macrocytic anemia, Hyp... |
OMIM:619046 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... |
OMIM:603552 |
Abetalipoproteinemia |
|
Steppage gait, Hepatomegaly, Hypothyroidism, Abnormal circulating apolipoprotein concentration, B... |
ORPHA:14 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Prolonged neonatal jaundice, Decreased circulating T4 concentration, Conjugated hyperbili... |
ORPHA:95715 |
Trimethylaminuria |
|
Neutropenia, Depression, Splenomegaly, Anemia |
OMIM:602079 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Jaundice, Abnormality of the pancreas, Hyperbilirubinemia, I... |
ORPHA:69665 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Hyperbilirubinemi... |
OMIM:614886 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hyperammonemia, Hypoglycemia, Decreased plasma free carnitine, Enlarged kidney, Nonketotic hypogl... |
OMIM:608836 |
Gapo Syndrome |
|
Dysmenorrhea, Oligospermia, Amenorrhea, Hypogonadism |
ORPHA:2067 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue h... |
OMIM:607616 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... |
OMIM:224120 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia |
OMIM:306000 |
Familial Thyroid Dyshormonogenesis |
|
Goiter, Positive perchlorate discharge test, Prolonged neonatal jaundice, Decreased circulating T... |
ORPHA:95716 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Delayed puberty, Cholestasis, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ... |
ORPHA:370 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hepatomeg... |
OMIM:616828 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly, Restrictive cardiomyopathy... |
OMIM:607685 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperammonemia, Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:614702 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... |
ORPHA:95717 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Hyperbili... |
OMIM:185000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating fumarate concentration, Atrial septal defect, Hyperalaninemi... |
OMIM:615160 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia |
OMIM:619170 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Hyperalaninemia, Elevated circulating creatine kinase concentration, Adrenal insuff... |
OMIM:619386 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Ataxia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic... |
ORPHA:42 |
Hepatocellular Carcinoma |
|
Polycythemia, Hepatomegaly, Hypokalemia, Hepatic necrosis, Emotional lability, Liver abscess, Abn... |
ORPHA:88673 |
Pparg-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Maternal diabetes, Dysmenorrhea, Hyperuricemia, Primary amenorrhea, Diabetes mell... |
ORPHA:79083 |
Splenoportal Vascular Anomalies |
|
Hyperammonemia, Diabetes mellitus, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous sys... |
OMIM:271500 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Suicidal ideation, Anemia, Cholestasis, Agitation, Congenital hepatic fibrosi... |
ORPHA:84081 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Left ventricular hypertrophy, Increased circulating creatine kinase MB i... |
OMIM:300280 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Cholelithiasis |
OMIM:605479 |
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia, Gait disturbance |
OMIM:301094 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Cholestatic liver disease, Atrial septal defect, Ventricular septal defect, Nephrogenic... |
OMIM:208085 |
Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Apathy, Ataxia, Hyperalaninemia, Hepatomegaly, Tip-toe gait, E... |
ORPHA:3008 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Prima... |
ORPHA:99429 |
Glycogen Storage Disease Vii |
|
Jaundice, Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglyc... |
OMIM:232800 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Leukocytosis, Reticulocytosis, Heinz ... |
OMIM:300908 |
Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
Bile Acid Conjugation Defect 1 |
|
Jaundice, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:619232 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating... |
OMIM:617872 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... |
OMIM:613986 |
Congenital Toxoplasmosis |
|
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites |
ORPHA:858 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase conce... |
OMIM:201475 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Cirrhosis, Conjug... |
OMIM:617049 |
Liver Disease, Severe Congenital |
|
Peritonitis, Atrial septal defect, Ventricular septal defect, Elevated circulating alpha-fetoprot... |
OMIM:619991 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... |
OMIM:613101 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Hyperbilirubinemia, Hyperglycemia, Biliary... |
OMIM:615710 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Premature ovarian insufficiency, Hypergalactosemia, Increased level of galact... |
ORPHA:79237 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Limb ataxia, Hyperammonemia, Hyperalaninemia, Ventricular hypertrophy, Hypertrophic cardiomyopath... |
OMIM:619051 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligospermia |
OMIM:614813 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hyperprolinemia, Hepatomegaly, Hyperalaninemia |
OMIM:619064 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Leukocytosis, Reticulocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Steppage gait, Hepatomegaly, Hypermanganesemia, Cirrhosis, Unconjugated hyperbiliru... |
OMIM:613280 |
Alpha-Heavy Chain Disease |
|
Premature ovarian insufficiency, Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegal... |
ORPHA:100025 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice, Abnormality of the liver, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90793 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Spl... |
OMIM:613027 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Irritabilit... |
OMIM:259720 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Decreased serum bile acid co... |
OMIM:214950 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Hypogonadism |
ORPHA:300298 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Acute hepatitis, Jaundice, Chronic hepatitis, Hemophagocytosis, Irritability,... |
ORPHA:39812 |
Caroli Disease |
|
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... |
ORPHA:53035 |
Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugat... |
ORPHA:567983 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration, Hyperbilirubinemia |
ORPHA:713 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hypophosphatemia, Intrahepatic cholestasis, Glycosuria, Hypouricemia, Postp... |
OMIM:227810 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hemolytic... |
ORPHA:71275 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Adrenal calcification, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hyp... |
ORPHA:75234 |
Caroli Syndrome |
|
Cholangitis, Jaundice, Leukocytosis, Leukopenia, Liver abscess, Intrahepatic cholestasis, Abnorma... |
ORPHA:480520 |
Wilson Disease |
|
Hemolytic anemia, Hypouricemia, Hypoparathyroidism, Hepatomegaly, Hyperbilirubinemia, Thrombocyto... |
OMIM:277900 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Dysme... |
OMIM:256550 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Jaundice, Cholestasis, Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Cirrh... |
OMIM:617156 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cardiomyopathy, Gait ataxia, Cardiomegaly, ... |
OMIM:619259 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased testicular size, Cryptorchidism, Penoscrotal hypospadias, Ambiguous genitalia, male, Cl... |
ORPHA:90791 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Cholestasis, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ... |
ORPHA:264580 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Propionic Acidemia |
|
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Pancytopenia, I... |
OMIM:300635 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Cardiomyopathy, Anxiety, Hepatomegaly, Elevated circulating creatine k... |
OMIM:300842 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... |
OMIM:618963 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Azoospermia, Decreased testicular size, Hypergonadotropic hypogonadism |
OMIM:300845 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content |
OMIM:261750 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Diabetes mellitus, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hypertriglycerid... |
ORPHA:2348 |
Hsd10 Disease, Infantile Type |
|
Hyperammonemia, Restlessness, Loss of ambulation, Dysphagia, Hypertrophic cardiomyopathy, Cardiom... |
ORPHA:391428 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Decreased testicular size, Hypogonadism, Ataxia, Hepatomegaly, Irritability, ... |
OMIM:201100 |
Cirrhotic Cardiomyopathy |
|
Jaundice, Left atrial enlargement, Left ventricular hypertrophy, Alcoholism, Abnormal B-type natr... |
ORPHA:57777 |
Hardikar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cholestasis, Hepatomegaly, Prolonged neonatal ja... |
OMIM:301068 |
Primary Lipodystrophy |
|
Polycystic ovaries, Cardiomyopathy, Pancreatitis, Cirrhosis, Hyperlipidemia, Menometrorrhagia, Ty... |
ORPHA:90970 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Inability to walk, Hemolytic anemia, Ataxia, Hepatomegaly, Conjugated hyperbilirubinemi... |
OMIM:608885 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Megaloblastic anemia, Ataxia, Diabetes mellitus, Cardiomyopathy, Diabetes ins... |
OMIM:222300 |
Isolated Biliary Atresia |
|
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... |
ORPHA:30391 |
Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Hyperactivity, Ataxia, Ventricular septal defect, Choreoathetosis, Difficulty walki... |
OMIM:615673 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... |
ORPHA:98870 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Anemia |
ORPHA:75563 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... |
OMIM:618652 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Elevated circulating phytanic acid concentration, Cryptorchidism, Jaundice, I... |
OMIM:614866 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Patent foramen ovale, Hypothyroidis... |
OMIM:601005 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Elevated circulating gamma-aminobutyric acid concentration, Hepatic bridgi... |
OMIM:619658 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Oligomenorrhea, Dysmenorrhea, Hepatocellular carcinoma, Fasting hypoglycemia, Ketotic hypoglycemi... |
ORPHA:79240 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
Relapsing Fever |
|
Jaundice, Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated... |
ORPHA:91547 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Anxiety, Attention deficit hyperactivity disorder, Cardiomegaly, Depre... |
OMIM:618798 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Gaucher Disease, Type Iii |
|
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly |
OMIM:231000 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi... |
ORPHA:2585 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, A... |
ORPHA:860 |
Nephrotic Syndrome, Type 14 |
|
Cryptorchidism, Micropenis, Hypogonadism, Ataxia, Lymphopenia, Hypertriglyceridemia, Adrenal insu... |
OMIM:617575 |
Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Cardiac myxoma, Cardiomegal... |
ORPHA:615 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Inability to walk, Steppage gait, Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, C... |
ORPHA:324410 |
8P11.2 Deletion Syndrome |
|
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Azoospermia, Patent ductus arteriosus, Hypogon... |
ORPHA:251066 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Jaundice, Hyperammonemia, Intrahepatic cholestasis, Hepatic fibrosis, Conjugated hyperbilirubinem... |
OMIM:617093 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Hyperammonemia, Cardiomyopathy, Hepatomegaly, Irritability, Elevated circu... |
OMIM:212138 |
Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Steatorrhea, Neutropenia, Hepatomegaly, Reticulocytopeni... |
OMIM:557000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Choreoathetosis, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytop... |
ORPHA:79312 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... |
OMIM:205400 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Priapis... |
OMIM:603903 |
Wilson Disease |
|
Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, A... |
ORPHA:905 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Azoospermia, Oligospermia, Male infertility |
ORPHA:125 |
Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Hyperlipi... |
ORPHA:91 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Adrenal ca... |
OMIM:278000 |
Ogden Syndrome |
|
Secundum atrial septal defect, Maternal diabetes, Polycythemia, Enlarged kidney, Ventricular sept... |
OMIM:300855 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral cryptorchidism, Male in... |
ORPHA:1772 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Increased circulating NT-proBNP concen... |
ORPHA:85451 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed puberty, Ventricular septal defect, Agitation, Broad-based gait, Emotional lability, Suic... |
OMIM:619475 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperammonemia, Decreased plasma free carnitine, Cardiomyopathy, Elevated circulating acylcarniti... |
ORPHA:228308 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Micropenis, Atrial septal defect, Ventricular septal defect, Anemia, Hyperbilirub... |
ORPHA:163979 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
X-Linked Intellectual Disability, Nascimento Type |
|
Cryptorchidism, Micropenis, Tetralogy of Fallot, Ventricular septal defect, Neutropenia, Double o... |
ORPHA:163956 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Goiter, Compensated hypothyroidism, Prolonge... |
ORPHA:90673 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadenitis, Increased circulating ferritin ... |
OMIM:618886 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, V... |
OMIM:602782 |
Dominant Beta-Thalassemia |
|
Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Hypot... |
ORPHA:231226 |
Whipple Disease |
|
Myocarditis, Pericarditis, Ataxia, Anemia, Hepatomegaly, Splenomegaly, Erectile dysfunction, Poly... |
ORPHA:3452 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroidism, Elevated hepat... |
ORPHA:231222 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia |
OMIM:619484 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Ataxia, Abnorma... |
OMIM:616113 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Decre... |
OMIM:613011 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Limb ataxia, Ataxia, Cardiomyopathy, Anxiety, Impotence, Cardiomegaly, Truncal ataxia |
OMIM:105210 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Ascites |
OMIM:253250 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Jaundice, Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasi... |
OMIM:614887 |
Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:95619 |
Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Hypoglycemia, Chronic hepatitis, Ventricular septal defect, Intrahepatic cholest... |
OMIM:614921 |
Beta-Thalassemia Major |
|
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Hypothyroi... |
ORPHA:231214 |
Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Cryptorchidism, Leydig cell neoplasia, Azoospermia, Precocious pub... |
ORPHA:361 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... |
OMIM:614736 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Polyphagia, Decreased fertility in females, Polycystic ovaries, Clitoral hypertrophy, Hepatomegal... |
OMIM:269700 |
Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Intrahepatic cholestasis, Ambiguous genitalia, male, Aca... |
OMIM:607330 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Ataxia, Decreased circulating follicle stimulatin... |
OMIM:308750 |
Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly, Ataxia |
OMIM:266500 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
Reynolds Syndrome |
|
Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Lymphopenia, Hyperbilirubinemia, Biliary cirrho... |
OMIM:613471 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Delayed puberty, Bipolar affective disorder, Hepatomegaly, Acute promyelocytic leukemia, Cholelit... |
ORPHA:77293 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ... |
OMIM:617713 |
Degcags Syndrome |
|
Dysplastic pulmonary valve, Ambiguous genitalia, Atrial septal defect, Ventricular septal defect,... |
OMIM:619488 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Left ventricular hypertrophy, Atrial septal defect, Cholestasis, Bile duct prolifera... |
OMIM:613610 |
Primary Biliary Cholangitis |
|
Hepatocellular carcinoma, Abnormal circulating lipid concentration, Jaundice, Abnormality of the ... |
ORPHA:186 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormality of the liver, Abnormal heart morphology, Hyperbilirubinemia, Thrombocytopenia, Hypert... |
ORPHA:464321 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased size of the clitoris, Cryptorchidism, Micropenis, Ambiguous genitalia, Primary amenorrh... |
ORPHA:95699 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Neutropenia, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Abnormal na... |
ORPHA:158061 |
Glycogen Storage Disease Ii |
|
Difficulty walking, Increased circulating creatine kinase MB isoform, Increased circulating NT-pr... |
OMIM:232300 |
Pediatric-Onset Graves Disease |
|
Emotional lability, Goiter, Graves disease, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:525731 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia |
ORPHA:228123 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Neutropenia, Fulminant hepatitis, Hepatomegaly, Thrombocytopen... |
OMIM:308240 |
Adult-Onset Still Disease |
|
Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis,... |
ORPHA:829 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Situs inversus totalis, Secundum atrial septal defect, Ventricular septal defect, Cholestasis, At... |
OMIM:619534 |
Solitary Fibrous Tumor |
|
Abnormality of the peritoneum, Uterine neoplasm, Neoplasm of the liver, Abnormal prostate morphol... |
ORPHA:2126 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Apathy, Anemia, Hepatomegaly, Dysphagia, Thrombocytopenia, Akinesia, Cardiome... |
OMIM:608013 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Pancreatitis, Hypo... |
ORPHA:90038 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Polyphagia, Decreased fertility in females, Diabetes mellitus, Polycystic ovaries, Cardiomyopathy... |
OMIM:608594 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome... |
ORPHA:79477 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Decreas... |
OMIM:618839 |
Carney Complex |
|
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Abnormal sperm m... |
ORPHA:1359 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Jaundice, Ataxia, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia... |
ORPHA:168577 |
Sandhoff Disease |
|
Hepatosplenomegaly, Ataxia, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Hypoglyc... |
OMIM:618835 |
Fumarase Deficiency |
|
Polycythemia, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hyperbilirubine... |
OMIM:606812 |
Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Abnormality of the ductus choledochus, Pancreatitis, Cholester... |