| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| 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 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| 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 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hypocalcemia, Malabsorption |
ORPHA:100025 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Malabsorption |
ORPHA:172 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... |
OMIM:175500 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Hypophosphatemia, Protein-losing enteropathy, Hypocalcemia, Hypoa... |
ORPHA:398063 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Bifid uvula, Hypocalcemic seizures |
OMIM:241410 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis, Hypocalcemia, Malabsorption |
ORPHA:47 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia, Peptic ulcer |
OMIM:145981 |
| Oculoskeletodental Syndrome |
|
Macroglossia, Hypercalcemia, Protein-losing enteropathy, Hypocalcemia |
OMIM:618440 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Protein-losing enteropathy, Hy... |
OMIM:618183 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Mednik Syndrome |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Ab... |
ORPHA:171851 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
| Infantile Myofibromatosis |
|
Hypercalcemia, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula |
ORPHA:2591 |
| Double Outlet Right Ventricle |
|
Hypocalcemia, Submucous cleft hard palate, Intestinal malrotation, Cleft palate |
ORPHA:3426 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Peptic ulcer, Hypophosphatemia |
OMIM:600740 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypocalcemi... |
ORPHA:247353 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Hypocalcemia |
OMIM:602361 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Hypomagnesemia, Ileus, Abnormal blood ion concentration, Colitis, Abnor... |
ORPHA:37042 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cleft palate, High palate, Hypocalcemia, Protein-losing enteropathy, Hypoproteinemia |
OMIM:235255 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Cholera |
|
Hyponatremia, Achlorhydria, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col... |
OMIM:174900 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia, Malabsorption |
ORPHA:213 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Hypercalcemia |
ORPHA:69077 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Gastroesophageal reflux, High palate, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
| Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Hypocalcemia, Steatorrhea |
OMIM:212750 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia, High palate, Protein-losing enteropathy |
ORPHA:1655 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Hyperkalemia, Elevated circulating creatinine concentration, Melena, Hyperphosphatemia |
ORPHA:340 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Malabsorption, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bi... |
OMIM:227810 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Igg4-Related Thyroid Disease |
|
Sialadenitis, Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Hyperkalemia, Gastrointestinal infarctions, Hypocalcemia, I... |
ORPHA:544482 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Isotretinoin-Like Syndrome |
|
Gastroesophageal reflux, Hypocalcemia, Cleft palate |
ORPHA:2306 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Gastritis, Hypocalcemia |
ORPHA:31826 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, High palate, Hypomagnesemia... |
OMIM:619743 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Hypocalcemia, Cleft palate |
OMIM:192430 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Hypocalcemia, Malabsorption |
ORPHA:175 |
| Pearson Syndrome |
|
Hypomagnesemia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Steatorrhea, Hyperalanine... |
ORPHA:699 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Cleft palate |
ORPHA:2237 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Esophageal varix, Gastroesophageal reflux, Hypocalcemia, High palate, Hyp... |
OMIM:613658 |
| Hennekam Syndrome |
|
Pyloric stenosis, Hypocalcemia, Malabsorption |
ORPHA:2136 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia, Hepatocellular carcinoma |
ORPHA:2088 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia, Cleft palate |
OMIM:300712 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
OMIM:131100 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Cleft palate |
ORPHA:163979 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Anorectal anomaly, Cl... |
ORPHA:567 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Recurrent infection of the gastrointestinal tract, Malabsorption |
ORPHA:83471 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Malabsorption |
ORPHA:289176 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia, Peptic ulcer, Dysphagia |
ORPHA:99880 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... |
ORPHA:913 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia, Peptic ulcer, Dysphagia |
ORPHA:143 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Hypocalcemia |
OMIM:218330 |
| Monosomy 13Q34 |
|
Hematochezia, Hypercalcemia |
ORPHA:96168 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, High palate, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Chronic gastritis, Elevated circulating alpha-fetoprotein concentration, Increased ... |
OMIM:619991 |
| Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Mccune-Albright Syndrome |
|
Benign gastrointestinal tract tumors, Gastroesophageal reflux, Hepatocellular adenoma, Hypophosph... |
ORPHA:562 |
| Vipoma |
|
Hypercalcemia, Malabsorption, Hematochezia, Neoplasm of the liver, Hypokalemia, Abnormal gastroin... |
ORPHA:97282 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Functional abnorm... |
ORPHA:29073 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Rectal prolapse, Colonic stenosis, Elevated circulating cre... |
ORPHA:90038 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Ppoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Intestinal carcinoid, Neoplas... |
ORPHA:97278 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Hypercalcemia |
ORPHA:476126 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Raine Syndrome |
|
Hypophosphatemia, High palate, Cleft palate, Protruding tongue |
OMIM:259775 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal reflux, Abnormal gastr... |
ORPHA:369837 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Steatorrhea, Neoplasm of the ... |
ORPHA:97283 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Reduced blood urea nitrogen, Hypophospha... |
OMIM:219800 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Grfoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Zollinger-Ellison syndrome, I... |
ORPHA:97261 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Increased circulating renin level, Hyp... |
ORPHA:85138 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Esophageal varix, Dysphagia, High palate, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Abnormal gastrointestinal mot... |
ORPHA:97280 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Increased VLDL cholesterol concentration, Malabsorption, Conjugated hyperbil... |
OMIM:243800 |
| Charge Syndrome |
|
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Hypocalcemia, Dysphag... |
OMIM:214800 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Malabsorption, Narrow palate, Hypokalemia, Gastroesophageal reflux, ... |
ORPHA:534 |
| Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, High palate, Bifid uvula |
OMIM:620330 |
| Digeorge Syndrome |
|
High, narrow palate, Cleft palate, High palate, Gastroesophageal reflux, Hypocalcemia, Bifid uvula |
OMIM:188400 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Hypercalcemia, Abnormal tongue morphology, Neoplasm of the liver, Ganglion... |
ORPHA:653 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
ORPHA:276152 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia |
ORPHA:228123 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... |
ORPHA:93932 |
| Bloom Syndrome |
|
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia |
ORPHA:125 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hypercalcemia, Hematemesis, Melena, Zollinger-Ellison syndrome, Gas... |
ORPHA:652 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Williams Syndrome |
|
Colonic diverticula, Peptic ulcer, Hypercalcemia, Malabsorption, Elevated circulating creatine ki... |
ORPHA:904 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Hypercalcemia, Celiac disease, Rectal prolapse, Gastroesophageal reflux |
OMIM:194050 |
| Noonan Syndrome 1 |
|
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias |
OMIM:163950 |
| Sarcoidosis |
|
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Hypercalcemia, Parotitis |
ORPHA:797 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
| Sotos Syndrome |
|
Gastroesophageal reflux, Aganglionic megacolon, Hypercalcemia |
ORPHA:821 |
