Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size |
ORPHA:98797 |
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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
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 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Bilateral breast hypoplasia,... |
ORPHA:52901 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility |
OMIM:615703 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Male infertility, Azoos... |
OMIM:301077 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testic... |
OMIM:229070 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, B lymphocy... |
OMIM:619281 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis... |
OMIM:619644 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... |
OMIM:228300 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Micropenis, Hypospadias, Oligospermia, Varicocele, Male... |
ORPHA:8 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Helicobacter pylori infection, Neutropenia, Monocytopenia |
ORPHA:2688 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Monocytosis, Micropenis |
OMIM:610680 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... |
OMIM:612885 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... |
ORPHA:543 |
Immunodeficiency 97 With Autoinflammation |
|
Colitis, Lymphopenia, Enterocolitis, Hemophagocytosis, Splenomegaly, Decreased proportion of CD8-... |
OMIM:619802 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Ascites, L... |
ORPHA:100025 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Lymphopenia, Eosinophilia, Monocytosis, Aplast... |
ORPHA:486 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism |
OMIM:300200 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Lymphopenia, Cleft palate, Splenomegaly, Cryptorchidism, Hypoplasia of... |
OMIM:612541 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal... |
ORPHA:79301 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadia... |
OMIM:601346 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Ovarian neoplasm, Prostate cancer, Neoplasm of the large intestine... |
ORPHA:157798 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Gastric varix, Splenomegaly |
OMIM:613490 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism |
OMIM:614897 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Renal hypoplasi... |
ORPHA:2470 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadeno... |
OMIM:613101 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... |
ORPHA:99429 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... |
ORPHA:91348 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... |
OMIM:618986 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Cryptorchidism |
ORPHA:2849 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Lymphadeni... |
OMIM:618935 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Inflammation of the large... |
OMIM:300635 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,... |
ORPHA:281090 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia |
OMIM:613313 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Chole... |
OMIM:615710 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice |
OMIM:620010 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct prolife... |
OMIM:602347 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Esophageal varix, Jaundice |
ORPHA:75234 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism |
ORPHA:91351 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... |
ORPHA:158057 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Esophageal varix, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Intestinal obst... |
ORPHA:131 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Abnormality of urine ... |
ORPHA:1414 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Precocious puberty, Oligospermia, Oligomenorrhea, Ambiguous genitalia, Female pseudo... |
ORPHA:786 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Gaucher Disease Type 2 |
|
Dysphagia, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... |
ORPHA:276 |
Leydig Cell Hypoplasia |
|
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Tes... |
ORPHA:83469 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice |
OMIM:619658 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... |
ORPHA:2978 |
Diphallia |
|
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ectopic scrotum, ... |
ORPHA:227 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Pyloric stenosis, Abnormality of neutro... |
ORPHA:381 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocyti... |
OMIM:616100 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S... |
OMIM:612714 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal polyposis,... |
ORPHA:2930 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... |
ORPHA:210122 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hepatomegaly, Splenomegaly, Increased urinary porphobilin... |
OMIM:618892 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools |
OMIM:619868 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... |
ORPHA:507 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Steatorrhea, Cirrhosis, Hepatosplenomegaly, Leuk... |
OMIM:278000 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... |
ORPHA:432 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism |
OMIM:602668 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... |
OMIM:616278 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... |
OMIM:601847 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Streak ovary, Mi... |
ORPHA:3464 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Familial Cold Autoinflammatory Syndrome 2 |
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Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Chronic Granulomatous Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Mediastinal lymphadenopathy... |
ORPHA:379 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Dysphagia, Abno... |
ORPHA:100026 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Duodenal Atresia |
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Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Azoospe... |
OMIM:308700 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Lumbar Syndrome |
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Ectopic anus, Anal atresia, Micropenis, Bifid scrotum, Hypospadias, Bifid uterus, Bladder exstrop... |
ORPHA:83628 |
Microgastria-Limb Reduction Defects Association |
|
Gastroesophageal reflux, Bicornuate uterus, Intestinal malrotation, Unilateral renal agenesis, Sp... |
OMIM:156810 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice... |
OMIM:613812 |
Osteopetrosis, Autosomal Recessive 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms |
OMIM:244400 |
Cold Agglutinin Disease |
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Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... |
OMIM:200995 |
Igg4-Related Submandibular Gland Disease |
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Sialadenitis, Abnormal pancreas morphology, Prostatitis, Eosinophilia, Xerostomia, Abnormal saliv... |
ORPHA:449432 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Immunodeficiency 60 And Autoimmunity |
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Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Pancytopenia, Ulcerative coliti... |
OMIM:618394 |
Autoinflammation With Infantile Enterocolitis |
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Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... |
OMIM:616050 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... |
OMIM:613179 |
Carney Complex |
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Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormali... |
ORPHA:234 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Dysphagia, Anemia, Thrombocytopenia |
OMIM:230900 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Fat malabsorption, Jaundice, Intrahepatic ... |
OMIM:211600 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, Ve... |
OMIM:617394 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Colitis, Recurrent infection of the gastrointestinal tract, Lymphocytosis, Nephrotic syndrome, Ab... |
ORPHA:911 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Intrahepatic cholestasi... |
OMIM:607765 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Renal hypoplasia, Hepatic fibrosis, Esophageal varix, Portal hypertension |
OMIM:616589 |
Gapo Syndrome |
|
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
Spherocytosis, Type 1 |
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Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... |
OMIM:619151 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Esophageal atresia, Abnormality of the spleen |
ORPHA:1305 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia |
ORPHA:228123 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... |
OMIM:257200 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Neutropenia, ... |
OMIM:557000 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomega... |
ORPHA:1655 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Gastrointest... |
ORPHA:91138 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Hemoglo... |
OMIM:194380 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... |
ORPHA:93111 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice |
OMIM:235555 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility |
OMIM:227650 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean... |
OMIM:300908 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Macrophage Activation Syndrome |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... |
ORPHA:158061 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pancreatic c... |
OMIM:167800 |
Oeis Complex |
|
Anal atresia, Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous ge... |
OMIM:258040 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Gastroesophageal reflux, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hiatus hernia, Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycys... |
OMIM:610199 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Fetal Gaucher Disease |
|
High palate, Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Transaldolase Deficiency |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros... |
OMIM:606003 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of the large intestine, B lympho... |
OMIM:614700 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancrea... |
OMIM:617941 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... |
OMIM:137920 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pelvic kidney, Neutropenia, Cryptorchidism, Micropenis, Hypergonadotropic hypog... |
OMIM:227646 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... |
OMIM:612964 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Hepatitis, B... |
ORPHA:829 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... |
OMIM:603903 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephr... |
OMIM:216360 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Rectal abscess, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Rectal abscess, Impaired oxidative bur... |
OMIM:233710 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilateral renal agenesis, Ectopic kid... |
OMIM:601076 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, ... |
OMIM:146255 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Abnormal renal ... |
ORPHA:540 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Female hypogonadism, Abnormal spermatogenesis |
OMIM:208900 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Clitoral hypoplasia |
OMIM:614813 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... |
OMIM:251880 |
Feingold Syndrome 1 |
|
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pol... |
OMIM:164280 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3162 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft lip and pa... |
ORPHA:699 |
Bloom Syndrome |
|
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency |
ORPHA:125 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... |
ORPHA:370 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Hepatomegaly, Intestinal malrotation, Trach... |
ORPHA:2538 |
Meckel Syndrome |
|
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Male pseud... |
ORPHA:564 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... |
OMIM:154230 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation |
OMIM:613027 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Rectal abscess, Impaired oxidative bur... |
OMIM:233690 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Achalasia, Lymphadenopathy, Aganglionic megacolon |
ORPHA:3386 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Pr... |
OMIM:235255 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Hardikar Syndrome |
|
Hepatomegaly, Cholestasis, Bladder exstrophy, Esophageal varix, Prolonged neonatal jaundice, Bile... |
OMIM:301068 |