Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... |
OMIM:301101 |
Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
Spermatogenic Failure 24 |
|
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... |
OMIM:617959 |
Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... |
ORPHA:98797 |
Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
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 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
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 |
Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
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 |
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 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus |
OMIM:615703 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia |
ORPHA:48 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... |
ORPHA:261529 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... |
OMIM:300200 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... |
ORPHA:320391 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia |
ORPHA:2183 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... |
ORPHA:91351 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... |
ORPHA:432 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... |
OMIM:612650 |
Lead Poisoning |
|
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... |
ORPHA:330015 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Azoospermia |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 11 |
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Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
48,Xyyy Syndrome |
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Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
Ciliary Dyskinesia, Primary, 18 |
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Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms |
OMIM:614874 |
49,Xyyyy Syndrome |
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External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... |
ORPHA:99330 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
Maternal Uniparental Disomy Of Chromosome X |
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Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
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Male infertility |
OMIM:300991 |
Kallmann Syndrome With Spastic Paraplegia |
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Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
Generalized Glucocorticoid Resistance Syndrome |
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Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... |
ORPHA:786 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... |
OMIM:617519 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
Myotonic Dystrophy 2 |
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Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... |
OMIM:602668 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... |
ORPHA:280679 |
Hemochromatosis, Type 1 |
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Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... |
OMIM:235200 |
Testicular Germ Cell Tumor |
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Azoospermia |
OMIM:273300 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
46,Xx Sex Reversal 2 |
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Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
46,Xx Sex Reversal 1 |
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Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
Complete Androgen Insensitivity Syndrome |
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Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... |
ORPHA:99429 |
Ring Chromosome 21 Syndrome |
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Amenorrhea, Infertility, Diabetes insipidus, Azoospermia |
ORPHA:1445 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... |
ORPHA:85450 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hypogonadism, Azoospermia |
OMIM:615234 |
Ciliary Dyskinesia, Primary, 15 |
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Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Abcd Syndrome |
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Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Ciliary Dyskinesia, Primary, 22 |
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Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 9 |
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Absent outer dynein arms, Male infertility |
OMIM:612444 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Reduced sperm motility |
OMIM:615434 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
Familial Glucocorticoid Deficiency |
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Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... |
ORPHA:361 |
Alpha-Thalassemia |
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Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
Beta-Thalassemia |
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Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia, Hypogonadotropic ... |
ORPHA:848 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Breast hypoplasia, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Diabetes mellitus, Sm... |
OMIM:614813 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Classic Galactosemia |
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Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... |
ORPHA:79239 |
Gapo Syndrome |
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Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism |
ORPHA:2067 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... |
OMIM:300845 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... |
ORPHA:1772 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... |
ORPHA:529799 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
Myotonic Dystrophy 1 |
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Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Carney Complex |
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Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... |
ORPHA:1359 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... |
ORPHA:300298 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism |
ORPHA:2239 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... |
ORPHA:3240 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Ciliary Dyskinesia, Primary, 19 |
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Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility |
OMIM:619608 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Hypogonadism |
OMIM:618165 |
Ziegler-Huang Syndrome |
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Persistence of hemoglobin F, Neutropenia, Hypogonadism, Macrocytic anemia |
OMIM:620501 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... |
ORPHA:465508 |
Bloom Syndrome |
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Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Abdominal obesit... |
ORPHA:125 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
Sickle Cell Anemia |
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Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
Leukodystrophy, Hypomyelinating, 5 |
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Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
8P11.2 Deletion Syndrome |
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Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, C... |
ORPHA:251066 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Aarskog-Scott Syndrome |
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Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... |
OMIM:305400 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
Adult Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
Bloom Syndrome |
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Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in females, Small for... |
OMIM:210900 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogonadism |
OMIM:227650 |
Wolfram Syndrome 1 |
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Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Methemoglobinemia |
OMIM:250800 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditor... |
ORPHA:99027 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Anemia, Absent brainstem auditory responses, Increased blood urea nitrogen, Hearin... |
ORPHA:90321 |
Renal Cysts And Diabetes Syndrome |
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Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... |
OMIM:137920 |
Ciliary Dyskinesia, Primary, 1 |
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Absent outer dynein arms, Male infertility |
OMIM:244400 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Autosomal Dominant Polycystic Kidney Disease |
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Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Leukodystrophy, Hypomyelinating, 13 |
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Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
Infantile Krabbe Disease |
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Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
Trichothiodystrophy 6, Nonphotosensitive |
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Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... |
ORPHA:228123 |
Tetrasomy 9P |
|
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Lissencephaly, Cryp... |
ORPHA:3310 |
Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231214 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... |
ORPHA:101085 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
Cystic Fibrosis |
|
Absent vas deferens, Male infertility, Decreased body mass index, Failure to thrive |
ORPHA:586 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... |
ORPHA:909 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Trisomy 10P |
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Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... |
ORPHA:171929 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Mend Syndrome |
|
Low-set ears, Elevated 8(9)-cholestenol, Abnormal auditory evoked potentials, Elevated 8-dehydroc... |
ORPHA:401973 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
Cystic Fibrosis |
|
Failure to thrive, Male infertility |
OMIM:219700 |
Cystinosis, Nephropathic |
|
Delayed puberty, Male infertility, Primary hypothyroidism, Failure to thrive, Diabetes mellitus, ... |
OMIM:219800 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
|
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... |
ORPHA:273 |
Alström Syndrome |
|
Precocious puberty in females, Primary hypothyroidism, Decreased circulating T4 concentration, In... |
ORPHA:64 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Hypogonadism, Failure to thrive in infancy, Cryptorchidism |
OMIM:163950 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Alkaptonuria |
|
Prostatitis, Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |