| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| 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 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| 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 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty |
OMIM:615961 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| 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 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| 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 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| 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 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Short stature |
OMIM:312910 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism, Short stature |
ORPHA:1383 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| 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 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Short stature, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Microp... |
ORPHA:85274 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... |
OMIM:262700 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Intrauterin... |
ORPHA:261483 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Polydactyly, Obesity |
OMIM:615988 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Polydactyly, Hypogonadism, Micropenis, Brachyda... |
OMIM:615983 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Gait disturbance, Hypogonadism, Short stature |
ORPHA:2815 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Abnormal morphology of ulna, Short neck, Decreased fertility, Obesity, Hypogonadis... |
ORPHA:2233 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital f... |
ORPHA:93308 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Polydactyly, Obesity |
OMIM:615987 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Short neck, Abnormality of ... |
ORPHA:2234 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Polydactyly, Hypogonadism, Brac... |
OMIM:615982 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis |
OMIM:261650 |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Postnatal growth retardation, Cryptorchidism, Inability to walk, Scoli... |
ORPHA:319332 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
| Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bo... |
OMIM:608728 |
| Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Intrauterin... |
ORPHA:85173 |
| Laron Syndrome |
|
Delayed menarche, Decreased serum insulin-like growth factor 1, Short long bone, Severe short sta... |
OMIM:262500 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Growth delay, Athetosis, Dystonia, Failure... |
OMIM:619310 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Hypogonadism, Gait disturbance, Abnormality of the ovary |
ORPHA:1875 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic sy... |
OMIM:608709 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Short neck, Obesity, Azoospermia, Abnormality of t... |
ORPHA:2183 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Cryptorc... |
ORPHA:3409 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Ataxia, Cryptor... |
ORPHA:3363 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot... |
OMIM:102370 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Limb ataxia, Hypogonadism, Truncal ataxia |
OMIM:615768 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... |
ORPHA:2410 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Bardet-Biedl Syndrome 16 |
|
Short stature, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly |
OMIM:615993 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis... |
ORPHA:3085 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Hypogonadism, Polydactyly, Clinodactyly |
OMIM:615984 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Delayed puberty |
OMIM:615270 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Insulin resistance, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Kyphoscoliosis, Coxa valga, Hyperlordosis, Disproportionate short... |
OMIM:618363 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Sandal gap, Hypospadias, Short stature, Tremor, Cryptorchidism, Kyphosis, Small hand, Gait ataxia... |
OMIM:300354 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Diabetes mellitus |
OMIM:614231 |
| Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Cryptorchidism, ... |
OMIM:615547 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... |
OMIM:146000 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
| Three M Syndrome 1 |
|
Hypospadias, Short stature, Small for gestational age, Short neck, Postnatal growth retardation, ... |
OMIM:273750 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, External genital hypoplasia, Thora... |
ORPHA:3041 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Brachydactyly |
OMIM:615633 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Postnatal growth retardation, Acromicria, Small hand, Obesity, Short foot, In... |
ORPHA:254525 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Metaphyseal w... |
OMIM:608940 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly |
OMIM:617119 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Xp22.3 Microdeletion Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... |
ORPHA:1643 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation, Cutaneous syndactyly, Finger cl... |
OMIM:272440 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Short stature, Coxa valga, Advanced ossification of carpal bones, Short long bone, Small epiphyse... |
OMIM:620269 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... |
ORPHA:755 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... |
OMIM:614732 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Small han... |
ORPHA:254531 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Hypogonadism, Short stature |
ORPHA:2528 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Supernumerary nipple, Ataxia, Decreased fertility, ... |
ORPHA:1173 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal, Short tibia... |
OMIM:118651 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short stature, Epiphyseal stippling, Abnormality of the vertebral column, Hypogonadism, Short dis... |
OMIM:302950 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Short stature, Biconvex vertebral bodies, Metaphyseal widening, ... |
OMIM:184260 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Short stature, Proximal placement of thumb, Short neck, Postnatal growth retardat... |
OMIM:300882 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microsc... |
OMIM:619525 |
| Moynahan Syndrome |
|
Hypogonadism, Short stature |
ORPHA:2574 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ... |
ORPHA:93316 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
| Chromosome 16Q22 Deletion Syndrome |
|
Broad hallux, Hypospadias, Small for gestational age, Short neck, Postnatal growth retardation, C... |
OMIM:614541 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... |
OMIM:615981 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Severe short stature, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificat... |
ORPHA:93352 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism, Short stature |
OMIM:618681 |
| Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Short stature, Ataxia, Coxa valga, Kyphosis, Sh... |
OMIM:248800 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Obesity, Postaxial polydactyly |
OMIM:615985 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ... |
OMIM:101800 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Marinesco-Sjögren Syndrome |
|
Short palm, Severe short stature, Ataxia, External genital hypoplasia, Coxa valga, Avascular necr... |
ORPHA:559 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... |
ORPHA:2256 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... |
OMIM:616026 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Postnatal growth retardation... |
OMIM:313400 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Short stature, Small for gestational ... |
OMIM:616489 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Lumbar hyperlordosis, Kyphoscoliosis,... |
OMIM:184253 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus |
ORPHA:225 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Camurati-Engelmann Disease, Type 2 |
|
Waddling gait, Hip contracture, Thoracolumbar scoliosis, Hypogonadism, Delayed puberty |
OMIM:606631 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Scoliosis, Hypogonadism, Patellar hypoplasia |
OMIM:251240 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Small for gestational age, Short neck, Wide distal femoral ... |
OMIM:613320 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Cryptorchidism, Rhiz... |
ORPHA:163654 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Coxa valga, Short neck, Cryptorchidis... |
ORPHA:96263 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... |
ORPHA:15 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| 9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polyd... |
ORPHA:531151 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Postural tremor, Unsteady gait, Truncal ataxia, Hand tremor, Limb ataxia, Hypogon... |
ORPHA:412057 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Maternal diabetes, Hypoplastic pubic bone, Flared metaphysis, Shor... |
ORPHA:93346 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Tapered finger, Cryptorchidism, Short toe, Tru... |
ORPHA:127 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Type I diabetes mellitus, Acute k... |
ORPHA:275555 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Flat a... |
ORPHA:94068 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:619751 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Hip ... |
OMIM:614078 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Gait ataxia, Decrease... |
OMIM:619761 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Sandal gap, Hypospadias, Short stature, Cachexia, Precoci... |
ORPHA:813 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, Metaphyseal wi... |
OMIM:250420 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism, Rocker bottom foot |
ORPHA:85283 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth... |
ORPHA:397590 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| 49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Down-sloping shoulders, Coxa valga, Short neck... |
ORPHA:96264 |
| Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lumbar h... |
OMIM:615777 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
| Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand polydactyly, Obesity, Postaxia... |
OMIM:615996 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ... |
ORPHA:93296 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe postnatal growth r... |
ORPHA:73272 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Short stature, Short neck, Cryptorchidism, Postaxial hand... |
ORPHA:110 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... |
OMIM:611717 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Unilateral cryptorchidism, Failure to thrive, Postnata... |
OMIM:206920 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Postnatal growth retardation, Cryptorchidism, Ulnar bowing, Wide anterior... |
OMIM:619135 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert... |
ORPHA:93315 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Anterior pituitary hypoplasia, Ataxia, Postnatal gr... |
OMIM:616113 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Flared metaphysis,... |
OMIM:215150 |
| Acrocephalopolydactyly |
|
Short long bone, Short neck, Brachydactyly |
ORPHA:221054 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Hypoplastic isc... |
OMIM:151210 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal ... |
ORPHA:453533 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Vertebral segmentation defect, Hypospadias, Short stature, Rhizom... |
OMIM:611209 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Absence of pubertal development |
OMIM:615267 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Pseudohypoparathyroidis... |
OMIM:103580 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... |
OMIM:300845 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Short neck, Elevated circulating thyroid-stimulating hormone con... |
OMIM:612462 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Short long bone, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... |
ORPHA:1772 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Growth delay, Gonadal dysgenesis, Hypogon... |
ORPHA:3306 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Genu valgum, Hypogonadism, Spina bifida... |
ORPHA:2983 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Hyperinsulinemia, Renal Fanconi syndrome, Fasting hypoglycemia, Glycosuria, Hyperins... |
ORPHA:263455 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypoglycemia, Proteinuria, Mesangial hypercellularity, Stage 5 chron... |
OMIM:617575 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... |
OMIM:618019 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Platyspondyly, M... |
OMIM:614524 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Abnormality of the kidney, Proteinuria |
ORPHA:369 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Cryptorchidism, Short long bone, Disproportionate... |
OMIM:224410 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... |
ORPHA:2232 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femo... |
OMIM:615503 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... |
ORPHA:398069 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
| Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... |
ORPHA:90291 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... |
OMIM:618150 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Cryptorchidism, Kyphosis, Small hand, Short foot, Hip dysplasia, Hypog... |
ORPHA:500055 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Hypogonadism, Decreased body weig... |
OMIM:616200 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Sho... |
ORPHA:1865 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia, Exercise-induced myoglobinuria |
OMIM:300559 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for... |
ORPHA:140 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Posta... |
OMIM:615849 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
| Ellis-Van Creveld Syndrome |
|
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Genu... |
OMIM:225500 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Crandall Syndrome |
|
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism |
ORPHA:202 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... |
ORPHA:97362 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Bowing of the long bones, Rhizomelia, Short stature, Small for gestational age... |
OMIM:616229 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:616007 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis... |
ORPHA:3042 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
| Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Severe short stature, Hypospadias, External genital hyp... |
ORPHA:2588 |
| Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Cryptorchidism, Testicular seminoma, Short stature |
ORPHA:281090 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Ataxia, Tremor, Hypogonadism, Decreased serum testosterone concentration, Failure ... |
OMIM:201100 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Senior-Loken Syndrome 9 |
|
Hypogonadism, Polydactyly, Hypoplasia of the femoral head, Obesity |
OMIM:616629 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Short neck, Wide anterior fontanel, Metaphyseal widening, Short long bone, Bicornuate uterus, Nar... |
OMIM:263210 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... |
ORPHA:1190 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of finger, Fa... |
ORPHA:2990 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria |
ORPHA:69126 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Postnatal g... |
OMIM:263750 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... |
OMIM:613845 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Cryptorchidism, Hypogonadism |
ORPHA:178303 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Absent thumb, Short neck, Bilateral radial aplasia, Growth delay,... |
OMIM:300514 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Short neck, Metaphyseal widenin... |
OMIM:224400 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the... |
OMIM:615630 |
| Xylt1-Cdg |
|
Short stature, Coxa valga, Flared metaphysis, Growth delay, Truncal obesity, Short long bone, Sho... |
ORPHA:370930 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Type I diabetes melli... |
ORPHA:213 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Absen... |
OMIM:227650 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Severe short stature, Waddling gai... |
OMIM:156400 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Ataxia, Postaxial polydactyly, Nephroge... |
OMIM:209900 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestati... |
OMIM:614813 |
| Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Dispropo... |
OMIM:200610 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturity-onset diabetes of the young,... |
OMIM:137920 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Rhyns Syndrome |
|
Radial bowing, Short stature, Decreased response to growth hormone stimulation test, Pituitary hy... |
OMIM:602152 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H... |
ORPHA:2298 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Hypospadias, Short stature, Postaxial... |
OMIM:614091 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, P... |
ORPHA:79255 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Vertebral fusion, Short stature, Ataxia, Cryptorchidism, Shor... |
OMIM:139210 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Growth delay, Testicular atrophy, Short stature |
OMIM:618165 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Postnatal growth retardation, Short long bone, Scoliosis, Short palm, Intrauterine g... |
OMIM:619184 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... |
OMIM:114290 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, Polydactyly, H... |
OMIM:615989 |
| Mucolipidosis Ii Alpha/Beta |
|
Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Split han... |
OMIM:252500 |
| Poems Syndrome |
|
Diabetes mellitus, Metaphyseal sclerosis, Abnormality of the endocrine system, Primary adrenal in... |
ORPHA:2905 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Irregular carpal bones, Split hand... |
OMIM:252600 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Small for gestational age, Cryptorchidism, Hypogonadism |
ORPHA:85323 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Hypoglycemia, Recurrent myoglobinuria |
OMIM:620300 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Azoospermia, Hypogonadism |
OMIM:615234 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Torticollis, Short neck, Femoral bowing, Short long bone, Hypoplasia of the t... |
OMIM:617022 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hypert... |
ORPHA:91347 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Greenberg Dysplasia |
|
Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Absent or minimally o... |
OMIM:215140 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
| Stuve-Wiedemann Syndrome 1 |
|
Short neck, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of finger, Short stature, C... |
OMIM:601559 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... |
OMIM:232200 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... |
ORPHA:439232 |
| Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Premature ovarian insufficiency, Short stature, Small for gestational age, Meta... |
ORPHA:221008 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine, Hypoketotic hypoglycemia |
ORPHA:228305 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Cockayne Syndrome A |
|
Hip contracture, Short stature, Ataxia, Tremor, Cryptorchidism, Kyphosis, Irregular menstruation,... |
OMIM:216400 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism,... |
ORPHA:251066 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial polydactyly, Fla... |
OMIM:616300 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst... |
ORPHA:33001 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Severe short stature, Hypospadias, External genital... |
ORPHA:2658 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Tibial bowing, Femoral bowing, Short me... |
OMIM:304120 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-p... |
ORPHA:300298 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal growth retard... |
ORPHA:263508 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short foot, Short long bone, Hyp... |
OMIM:269860 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Disproportionate shor... |
OMIM:619479 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Septate vagina, Short neck, Wide anterior fontanel, Pr... |
OMIM:617925 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Renal tubular acidosis, Recurrent hypoglycemia, Fasting hypoglycemia, Myogl... |
ORPHA:79240 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
| Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of han... |
OMIM:180700 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232220 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Postnatal growth retard... |
OMIM:163950 |
| Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Proteinuria |
ORPHA:79086 |
| Frank-Ter Haar Syndrome |
|
Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M... |
OMIM:249420 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Hypoketotic hypoglycemia |
OMIM:609015 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Diabetes mellitus, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic... |
OMIM:219800 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Hypoglycemia, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, De... |
OMIM:232240 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... |
ORPHA:125 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Ovarian cyst, Short long bon... |
OMIM:618188 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Insulin resist... |
ORPHA:358 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of th... |
OMIM:617088 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... |
OMIM:617303 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria |
ORPHA:549 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
| Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria, Hypoglycemia, Fasting hypoglycemia |
ORPHA:264580 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria, Hypoglycemia |
OMIM:616878 |
| Geleophysic Dysplasia 1 |
|
Short palm, Short stature, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irre... |
OMIM:231050 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Melas |
|
Diabetes mellitus, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Type II... |
ORPHA:550 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
| Pyknoachondrogenesis |
|
Short iliac bones, Abnormal iliac wing morphology, Poorly ossified vertebrae, Short long bone, Un... |
ORPHA:3003 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... |
ORPHA:505248 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst |
OMIM:212065 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
| Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Proteinuria, Stage 5 chronic kidney disease, Hypoglycemic seizures, Nephrolithiasis... |
ORPHA:79259 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
| Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Hypoglycemia, Proteinuria, Abnormality of the urinary system |
ORPHA:2162 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99413 |
| Turner Syndrome |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:881 |
| Mosaic Monosomy X |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99228 |
| Monosomy X |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99226 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Neuroleptic Malignant Syndrome |
|
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence |
ORPHA:94093 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Cystic Fibrosis |
|
Male infertility, Clubbing of fingers, Failure to thrive |
OMIM:219700 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn... |
ORPHA:324 |
| Pearson Syndrome |
|
Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
| Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
| Cockayne Syndrome |
|
Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, Unilateral rena... |
ORPHA:191 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
| Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis |
ORPHA:900 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased ... |
ORPHA:544482 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
| Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
| Relapsing Polychondritis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:619127 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
| Postinfectious Vasculitis |
|
Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis |
ORPHA:48435 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... |
ORPHA:904 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
| Pmm2-Cdg |
|
Proteinuria, Insulin resistance, Hyperinsulinemia, Nephrotic syndrome, Multiple renal cysts, Abno... |
ORPHA:79318 |
