Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
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 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Choleli... |
ORPHA:848 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:163596 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Evans Syndrome |
|
Epistaxis, Jaundice, Syncope, Pallor, Petechiae |
ORPHA:1959 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Azoospermia, Hypogonadism, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund... |
ORPHA:231222 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest |
ORPHA:49827 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Intrauterine growth retardation, Cho... |
OMIM:266200 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhyt... |
ORPHA:3386 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor |
ORPHA:90033 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Hepatomegaly, Pallor, Splenomegaly |
ORPHA:3226 |
Prolactinoma |
|
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... |
ORPHA:2965 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Pallor, Hepatomegaly |
ORPHA:75564 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... |
ORPHA:91349 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Dominant Beta-Thalassemia |
|
Hypersplenism, High-output congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Jaundi... |
ORPHA:231226 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Restrictive cardiomyopathy, Cholelithiasis |
ORPHA:822 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Azoospermia, Hypogonadism, Pallor, Elevated he... |
ORPHA:300298 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas... |
ORPHA:33226 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, High-output congestive heart failure, Splenomegaly, Dilated cardiomy... |
ORPHA:231214 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Bradycardia, Hypotension, Decreased liver func... |
ORPHA:90051 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Pallor, Elevated hepatic transaminase |
ORPHA:98870 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis |
ORPHA:348 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... |
ORPHA:91347 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... |
ORPHA:137675 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D... |
ORPHA:79239 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Sheehan Syndrome |
|
Dyspareunia, Orthostatic hypotension, Decreased female libido, Impotence, Palpitations, Bradycard... |
ORPHA:91355 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate... |
ORPHA:20 |
Adenohypophysitis |
|
Orthostatic hypotension, Decreased female libido, Impotence, Pallor, Decreased male libido, Ameno... |
ORPHA:95512 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension, Hepatomegaly |
ORPHA:134 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Panhypophysitis |
|
Orthostatic hypotension, Decreased female libido, Impotence, Pallor, Decreased male libido, Ameno... |
ORPHA:95513 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension, Pallor |
ORPHA:95613 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor |
OMIM:609053 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Transient ischemic attack, Cholangitis, Supraventricular arrhythmi... |
ORPHA:3260 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Male infertility, Primary testicular failure, Congesti... |
ORPHA:85450 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Primary amenorrhea |
OMIM:617675 |
Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor |
ORPHA:329971 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Anemic pallor |
OMIM:227650 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Congestive heart failure, Pallor, Webbed neck, Intrauterine growth retardation |
OMIM:105650 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Pulmonary arterial hy... |
OMIM:619488 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... |
ORPHA:653 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pulmonary arterial hypertension, Pallor, Hepatomegaly |
ORPHA:667 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Hypergonadotropic hypogonadism, Anemic pallor, Cryptorchidism |
OMIM:227645 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Pancreatitis, Hypertensive crisis |
ORPHA:544482 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Anemic pallor |
OMIM:600901 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Annular pancreas, Hypergonadotropic hypogonadism, Anemic pallor |
OMIM:227646 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Diamond-Blackfan Anemia |
|
Pallor, Webbed neck |
ORPHA:124 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congest... |
ORPHA:99125 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Male infertility |
OMIM:244400 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, E... |
OMIM:219700 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... |
ORPHA:1772 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Noonan Syndrome 1 |
|
Male infertility, Cryptorchidism, Hypogonadism, Pulmonic stenosis, Webbed neck, Hypertrophic card... |
OMIM:163950 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |