Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia |
OMIM:615703 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... |
OMIM:619271 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... |
ORPHA:320391 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:155100 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... |
OMIM:300048 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant... |
OMIM:231200 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... |
OMIM:153640 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Giant platelets, Congen... |
ORPHA:182050 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:602668 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Infertility, Adrenocorticot... |
ORPHA:91348 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Dysphagia, Anemia, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal ... |
ORPHA:2070 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Esophagitis, Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Esophagitis, Eosinophilia |
OMIM:613412 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia |
OMIM:153670 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm |
OMIM:612650 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Median cleft palate, Giant platelets, Thrombo... |
OMIM:169400 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Oligomenorrhea, Amenorrhea, Hypogona... |
ORPHA:91351 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Candidiasis, Familial, 2 |
|
Hypereosinophilia |
OMIM:212050 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopen... |
OMIM:304790 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A... |
ORPHA:90797 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... |
OMIM:613807 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, High palate |
OMIM:618282 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Crohn's disease, Decreased basophil count, Decreased proportion of memory B cells, ... |
OMIM:618394 |
Cinca Syndrome |
|
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia |
OMIM:607115 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Glossitis, Pancytopenia, Thrombocytopenia, Eosinophilia, Gastroesophageal r... |
ORPHA:90045 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... |
ORPHA:261519 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Decreased circulating aldosterone level, Infertility, Oligomenorrhea, Increased cir... |
ORPHA:786 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... |
ORPHA:330015 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:614935 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Inflammation of the large intestine, Lymphocytosis |
OMIM:617718 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, High palate |
OMIM:147060 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggreg... |
ORPHA:274 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Neutropenia, Mon... |
ORPHA:486 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Macroglossia, Eosinophilia |
OMIM:618523 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Ring Chromosome 21 Syndrome |
|
Infertility, Amenorrhea, Azoospermia |
ORPHA:1445 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Netherton Syndrome |
|
Abnormal intestine morphology, Intestinal atresia, Villous atrophy, Hypereosinophilia |
OMIM:256500 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... |
ORPHA:280679 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia |
ORPHA:353298 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Absence of CD8-positive T cells, Hepatosplenom... |
ORPHA:911 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Omenn Syndrome |
|
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia |
ORPHA:39041 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility |
ORPHA:85450 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Lactose intolerance, High palate, Neutropenia, Abnormal proportion of CD8... |
ORPHA:443811 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... |
OMIM:300845 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... |
ORPHA:99330 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypopl... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decre... |
OMIM:308700 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea |
ORPHA:2067 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Impotence |
OMIM:235200 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Abnormality of the gastrointestinal tract |
ORPHA:2902 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated circulating follicle stimulating horm... |
ORPHA:90793 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Immunodeficiency 23 |
|
High palate, Neutropenia, Abscess, Esophageal stricture, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hypoplasia of the thymus, Hepato... |
ORPHA:84064 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro... |
ORPHA:848 |
Aspergillosis |
|
Eosinophilia, Neutropenia, Abnormal esophagus morphology |
ORPHA:1163 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Clitoral hypoplasia |
OMIM:614813 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary a... |
ORPHA:79239 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Decreased circulating aldosterone level, Azoospermia, Penoscrotal hypospadias, Ambig... |
ORPHA:90791 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:617388 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hypereosinophilia |
ORPHA:449400 |
Lathosterolosis |
|
Increased mean platelet volume, High palate, Anisopoikilocytosis, Schistocytosis, Acanthocytosis,... |
OMIM:607330 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Enterocolitis, Thrombocytopenia, Tooth abscess... |
ORPHA:2686 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia, Anal atresia |
OMIM:617425 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Hypogonadism, Abnormal stomach morphology |
ORPHA:281090 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume, Villous atrophy, Bifid uvula |
OMIM:222470 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Scleroderma |
|
Abnormal large intestine morphology, Abnormality of the small intestine, Abnormal stomach morphol... |
ORPHA:801 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Iga Pemphigus |
|
Eosinophilia, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Azoospermia |
ORPHA:300298 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Normocytic anemia, Celiac disease, Premature ovarian insufficiency, Eosinophilia |
ORPHA:199299 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Dysphagia, Malabsorption, Intestinal obstruction, Eosinophilia, Gastroesophageal reflux |
ORPHA:183 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Ménétrier Disease |
|
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... |
ORPHA:2494 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... |
ORPHA:91 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Inflammation of the large intes... |
OMIM:600903 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Cleft palate |
ORPHA:2314 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Gastric varix, Splenomegaly, Gast... |
ORPHA:64743 |
Angiostrongyliasis |
|
Hypereosinophilia, Gastrointestinal eosinophilia |
ORPHA:74 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... |
ORPHA:361 |
Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
8P11.2 Deletion Syndrome |
|
Azoospermia, Hypogonadotropic hypogonadism, Patent ductus arteriosus, Hypogonadism, Cryptorchidis... |
ORPHA:251066 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Dysphagia, Thrombocytosis, Anemia, Malabsorption, Splenomegaly, Myeloproliferative ... |
ORPHA:3260 |
Diphallia |
|
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... |
ORPHA:227 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abscess, Eosinophilia, Splenic cyst |
ORPHA:400 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Melena |
OMIM:158310 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Azoospermia |
OMIM:210900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Meckel diverticulum, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia |
OMIM:274000 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Exocrine pancreatic insufficiency, Reduced sperm motility, Bic... |
OMIM:137920 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Fused labia majora, Elevated circulating follicle stimulating hormone ... |
ORPHA:95699 |
Alveolar Echinococcosis |
|
Anemia, Abnormal spleen morphology, Eosinophilia, Cutaneous abscess, Liver abscess |
ORPHA:284 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonadotropin l... |
ORPHA:2232 |
Carney Complex |
|
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Sertoli ... |
ORPHA:1359 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Neoplasm of the larg... |
ORPHA:157798 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... |
ORPHA:3464 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatocellular carcinoma, Erythroid hyperplasia, Splenomegaly, Persistence of hemog... |
ORPHA:231222 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Bifid uvula, Persistence of h... |
OMIM:612561 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Pancreatitis, Abnormality of the female genitalia, Abnormality of the ... |
ORPHA:228123 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... |
ORPHA:44890 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... |
ORPHA:508533 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Prostatitis, Xerostomia, Abnormality of the submandibular gla... |
ORPHA:449432 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Igg4-Related Pachymeningitis |
|
Dysphagia, Eosinophilia, Parotitis |
ORPHA:449427 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... |
ORPHA:329971 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Abnormal spermatogenesis |
OMIM:208900 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, High palate, Microcytic anemia |
ORPHA:98791 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... |
OMIM:174900 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, A... |
ORPHA:906 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... |
OMIM:260400 |
Griscelli Syndrome |
|
Pyloric stenosis, Leukopenia, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:381 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Tetrasomy 9P |
|
Oligospermia, Infertility, Pachygyria, Micropenis, Polymicrogyria, Cryptorchidism, Lissencephaly |
ORPHA:3310 |
Igg4-Related Ophthalmic Disease |
|
Prostatitis, Sialadenitis, Orchitis, Eosinophilia, Colon cancer |
ORPHA:449563 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persistence of hemoglobin ... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persi... |
ORPHA:231214 |
Lymphatic Filariasis |
|
Orchitis, Hypereosinophilia |
ORPHA:2035 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Neoplasm of the gastrointestinal tract, Leukemia, Pure red cell ... |
ORPHA:99867 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Malabsorption, Splenomegaly, Tracheoesophageal fistula, Abnormality of neutroph... |
ORPHA:379 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Macroglossia, HbH... |
OMIM:141750 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, High palate, Neutropenia, Elevated red cell adenosine deaminase level, Increased ... |
ORPHA:124 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
Sarcoidosis |
|
Leukopenia, Increased T cell count, Anemia, Parotitis, Enlargement of parotid gland, Abnormality ... |
ORPHA:797 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Macroglossia, Volvulus, Abnormal hemoglobin, Anemia, Gastroesophageal reflux |
ORPHA:847 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Eosinophilia, Prostatitis |
ORPHA:449395 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... |
ORPHA:90291 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Abnormality of the spleen, Rectovaginal fistula, Esophagitis, Eso... |
ORPHA:2538 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Macroglossia, Protruding tongu... |
OMIM:301040 |
Viss Syndrome |
|
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... |
OMIM:619472 |
Floating-Harbor Syndrome |
|
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism |
OMIM:136140 |
Cystinosis, Nephropathic |
|
Primary hypothyroidism, Male hypogonadism, Male infertility, Hypohidrosis, Exocrine pancreatic in... |
OMIM:219800 |
Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst, Pancreatic islet cell adenoma, Hyperhid... |
ORPHA:892 |
Microgastria-Limb Reduction Defects Association |
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Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Gast... |
OMIM:156810 |
Cushing Disease |
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Leukocytosis, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Abnormal libido, Lymphopenia, Dec... |
ORPHA:96253 |
Cystic Fibrosis |
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Exocrine pancreatic insufficiency, Male infertility, Pancreatitis |
OMIM:219700 |
Noonan Syndrome 1 |
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Hypospadias, Patent ductus arteriosus, Hypogonadism, Male infertility, Cryptorchidism |
OMIM:163950 |
Congenital Tracheal Stenosis |
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Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... |
ORPHA:141127 |
Metachromatic Leukodystrophy |
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Abnormal duodenum morphology, Intussusception, Neoplasm of the gallbladder, Abnormal stomach morp... |
ORPHA:512 |
Tropical Endomyocardial Fibrosis |
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Eosinophilia, Splenomegaly |
ORPHA:75565 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Secondary amenorrhea, Oligomenorrhea, Neoplasm of the stomach, Amenorrhea, Small in... |
ORPHA:99889 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Reynolds Syndrome |
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Xerostomia, Dysphagia, Gastroesophageal reflux, Abnormal gastric mucosa morphology |
ORPHA:779 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
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Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Floating-Harbor Syndrome |
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Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism, Pr... |
ORPHA:2044 |
Hardikar Syndrome |
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Bilateral cleft lip and palate, Esophageal varix, Celiac disease, Cleft soft palate, Gastric vari... |
OMIM:301068 |
Alström Syndrome |
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Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Decreased response to... |
ORPHA:64 |
Esophageal Atresia |
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Pyloric stenosis, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormality of the gas... |
ORPHA:1199 |
Dermatomyositis |
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Abnormal eosinophil morphology, Gastrointestinal stroma tumor |
ORPHA:221 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Intestinal atresia, Congenital pyloric atresia |
ORPHA:79403 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia |
ORPHA:158684 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Williams Syndrome |
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Rectal prolapse, Abnormal gastric mucosa morphology, Macroglossia, Functional abnormality of male... |
ORPHA:904 |