| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... |
OMIM:619177 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Spermatogenic Failure 20 |
|
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| 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 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| 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 |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Ciliary Dyskinesia, Primary, 51 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620438 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Familial Renal Glucosuria |
|
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections |
ORPHA:69076 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Cataract 47 |
|
Glycosuria |
OMIM:612018 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Prote... |
OMIM:616026 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Hyperlipidemia, Ketotic hypoglycemia |
ORPHA:2089 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria |
OMIM:618857 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia |
OMIM:615703 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria |
OMIM:620152 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... |
OMIM:300539 |
| Variegate Porphyria |
|
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria |
OMIM:176200 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobu... |
OMIM:227810 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Mody |
|
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... |
ORPHA:552 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Postprandial hyperglycemia, Nephrocalcinosis, Glycosuria,... |
ORPHA:2088 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria, Hypernatremia |
OMIM:304800 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures, Male infe... |
ORPHA:2239 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Small for gestational age, Diab... |
OMIM:618858 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Proteinuria, Re... |
ORPHA:263455 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Hereditary Coproporphyria |
|
Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi... |
ORPHA:79273 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Co... |
OMIM:613404 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia |
OMIM:615926 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... |
ORPHA:94093 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... |
ORPHA:753 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... |
ORPHA:8 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Small for ge... |
OMIM:606176 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... |
ORPHA:411536 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Male infertility, Ami... |
OMIM:219800 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... |
OMIM:613845 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... |
ORPHA:411629 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, El... |
OMIM:137920 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... |
OMIM:613090 |
| Coproporphyria, Hereditary |
|
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... |
OMIM:121300 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis |
OMIM:300323 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level |
ORPHA:556037 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia |
OMIM:264350 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Porphyria, Acute Hepatic |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:612740 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Nephritis, ... |
ORPHA:2298 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... |
OMIM:618849 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
ORPHA:436271 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level |
ORPHA:556030 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hype... |
OMIM:229600 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... |
ORPHA:3467 |
| Central Diabetes Insipidus |
|
Hyponatremia, Nocturia |
ORPHA:178029 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Impotence, Oligomenorrhea |
ORPHA:91354 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... |
OMIM:617091 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemic seizures, Neonatal hypoglycemia |
ORPHA:199296 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
OMIM:220110 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia |
OMIM:620423 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Seckel Syndrome 10 |
|
Insulin resistance, Glycosuria, Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1... |
OMIM:617253 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... |
ORPHA:91351 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... |
ORPHA:427 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia |
OMIM:608688 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... |
ORPHA:89938 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... |
ORPHA:100924 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility |
OMIM:614874 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
| Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Recurrent urinary tract infections, Azoospermia, Hyponatremia, Ketotic hypoglycem... |
ORPHA:361 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Hyperg... |
ORPHA:99885 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Azoospermia, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia... |
ORPHA:90791 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... |
OMIM:277900 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... |
ORPHA:848 |
| Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... |
ORPHA:31824 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased circulating ost... |
ORPHA:330015 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Glucose intolerance, Glycosuria, Renal tubular dysfunction |
OMIM:616539 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Cholera |
|
Acute kidney injury, Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine outpu... |
ORPHA:173 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Proteinuria, Renal cy... |
ORPHA:699 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Acute Intermittent Porphyria |
|
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... |
ORPHA:79276 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Adenohypophysitis |
|
Decreased male libido, Decreased female libido, Hyponatremia, Amenorrhea, Hyposthenuria, Impotence |
ORPHA:95512 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Snakebite Envenomation |
|
Hyponatremia, Acute kidney injury |
ORPHA:449285 |
| Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Priapism, Hyperglycemia, Hypokalemia, Increased circu... |
ORPHA:466677 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias... |
ORPHA:411543 |
| Myasthenia Gravis |
|
Glycosuria |
ORPHA:589 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hyperbilir... |
ORPHA:1667 |
| Panhypophysitis |
|
Decreased male libido, Decreased female libido, Hyponatremia, Amenorrhea, Hyposthenuria, Impotence |
ORPHA:95513 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... |
ORPHA:231222 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Hypoglycemia, Hyponatremia, Hyperkalemia, Hypos... |
OMIM:617053 |
| Hartsfield Syndrome |
|
Micropenis, Hypospadias, Hypernatremia |
OMIM:615465 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Acute Adrenal Insufficiency |
|
Hypoglycemia, Renal insufficiency, Decreased female libido, Hyperuricemia, Hyponatremia, Decrease... |
ORPHA:95409 |
| Molybdenum Cofactor Deficiency, Type A |
|
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine ... |
OMIM:252150 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem... |
OMIM:617913 |
| Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... |
ORPHA:79239 |
| Legionnaires Disease |
|
Hyponatremia, Hematuria, Renal insufficiency, Proteinuria |
ORPHA:549 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... |
OMIM:616943 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility |
OMIM:613808 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive... |
ORPHA:247353 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... |
OMIM:618183 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Neutropeni... |
ORPHA:2169 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Absent inner and outer dynein arms |
OMIM:615444 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... |
ORPHA:168558 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Sheehan Syndrome |
|
Hypoglycemia, Decreased female libido, Hyponatremia, Amenorrhea, Oligomenorrhea, Hyposthenuria, D... |
ORPHA:91355 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... |
ORPHA:289548 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... |
OMIM:601678 |
| Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Premature ovarian insufficie... |
ORPHA:199299 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... |
OMIM:617052 |
| Atypical Werner Syndrome |
|
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypogonadism, Hypergly... |
ORPHA:79474 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Whipple Disease |
|
Hyponatremia, Erectile dysfunction, Insulin resistance |
ORPHA:3452 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... |
OMIM:201810 |
| Addison Disease |
|
Type I diabetes mellitus, Hypoglycemia, Decreased female libido, Hyperuricemia, Premature ovarian... |
ORPHA:85138 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... |
ORPHA:73224 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
|
