Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
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 17 |
|
Male infertility |
OMIM:617214 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
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 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
Acid-Labile Subunit Deficiency |
|
Delayed puberty, Mild postnatal growth retardation, Decreased serum insulin-like growth factor 1 |
OMIM:615961 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
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 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
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 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Syndactyly, 2-4 toe syndactyly, Azoospermia |
OMIM:241000 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... |
OMIM:614840 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Spastic Paraparesis And Deafness |
|
Short stature, Hypogonadism |
OMIM:312910 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Short stature, Hypogonadism |
ORPHA:1383 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short 4th metacarpal, Short stature, Azoospermia, Short neck, Hypergonadotropic hypogonadism, Obe... |
ORPHA:2183 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... |
OMIM:262700 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Syndromic X-Linked Intellectual Disability 7 |
|
Tapered finger, Hypogonadism, Short stature, Hypoplasia of penis, Cryptorchidism, Obesity, Microp... |
ORPHA:85274 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
Xq27.3Q28 Duplication Syndrome |
|
Small hand, Hypogonadism, Short stature, Premature ovarian insufficiency, Decreased testicular si... |
ORPHA:261483 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea |
OMIM:617442 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Small hand, Short stature, Thoracic hemivertebrae, Infertility, Clinodactyly,... |
ORPHA:1445 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... |
ORPHA:174 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity, Hypogonadism |
OMIM:615988 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... |
OMIM:271530 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Syndactyly, Brachydactyly, Obesity, Micro... |
OMIM:615983 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... |
OMIM:250460 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Short stature, Gait disturbance, Hypogonadism |
ORPHA:2815 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Beaking of vertebral ... |
ORPHA:750 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Moderate albuminuria, Abnorm... |
ORPHA:99885 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Short 5th finger, Abnormality of the testis size, External genital... |
ORPHA:99330 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Hypogonadism, Abnormal testis morphology, Short stature, Abnormal metacarpal... |
ORPHA:2233 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Gonadal tissue inappropriate for external genitalia or chromosomal sex, ... |
ORPHA:261519 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Short long bone, Small for gestational age, Short finger, Ulnar dev... |
OMIM:222600 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... |
OMIM:615925 |
48,Xxyy Syndrome |
|
Decreased testicular size, Hip dysplasia, Infertility, Type II diabetes mellitus, Azoospermia, Ra... |
ORPHA:10 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Eunuchoid habitus, Delaye... |
ORPHA:432 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Prote... |
OMIM:608709 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity, Hypogonadism |
OMIM:615987 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis |
OMIM:619269 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor |
OMIM:613724 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Azoospermia, Radioulnar synostosis, Male hypogonadism, Dislocated ... |
ORPHA:99329 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Mayer-Rokitansky-KĂĽster-Hauser Syndrome Type 2 |
|
Short stature, Bicornuate uterus, Vertebral segmentation defect, Azoospermia, Short neck, Aplasia... |
ORPHA:2578 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Short stature, Delayed puberty, Hypospadias, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mel... |
ORPHA:2234 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short phalanx of finger, Decreased response to growth hormone stimulation test, Small hand, Short... |
OMIM:300845 |
48,Xxxy Syndrome |
|
Coxa valga, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoo... |
ORPHA:96263 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Syndactyly, Cryptorchidism, Brachydactyly... |
OMIM:615982 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Lumbar hyperlo... |
OMIM:608728 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small hand, Hypogonadism, Short stature, Decreased testicular size, Small for gestational age, De... |
OMIM:300869 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Beaking of vertebral b... |
OMIM:177170 |
Image Syndrome |
|
Hypogonadism, Hypospadias, Cryptorchidism, Metaphyseal dysplasia, Intrauterine growth retardation... |
ORPHA:85173 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria |
OMIM:230400 |
49,Xxxxy Syndrome |
|
Coxa valga, Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mellitus, In... |
ORPHA:96264 |
X-Linked Intellectual Disability, Van Esch Type |
|
Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe... |
ORPHA:163976 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria |
ORPHA:79087 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance |
ORPHA:1875 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Laron Syndrome |
|
Severe short stature, Short long bone, Decreased serum insulin-like growth factor 1, Delayed mena... |
OMIM:262500 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Hypogonadism, Kyphosis, Toe syndactyly, Short stature, Clinodactyly of t... |
ORPHA:3409 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... |
OMIM:614837 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati... |
ORPHA:2410 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Short stature, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615993 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism, Truncal ataxia, Limb ataxia, Tremor, Unsteady gait |
OMIM:615768 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Diabetes mellitus |
OMIM:614231 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Hypogonadism, Clinodactyly, Obesity, Postaxial polydactyly |
OMIM:615984 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Short long... |
OMIM:113000 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Hypogonadism |
OMIM:615270 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614897 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Hyperlordosis, Kyphosis, Secondary amenorrhea, Decreased testicular ... |
ORPHA:3085 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L... |
ORPHA:2232 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... |
ORPHA:1772 |
X-Linked Intellectual Disability, Cilliers Type |
|
Small hand, Short stature, Absence of secondary sex characteristics, Decreased testicular size, C... |
ORPHA:163971 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small hand, Short stat... |
ORPHA:254516 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hyperlordosis, Genu valgum, Irregular vertebral endplates, Advanced ossification of carpal bones,... |
OMIM:618363 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:146110 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Diabetes mellitus, Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Inability to walk, Short neck, Difficulty walking, Beaking of vertebral b... |
ORPHA:239 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta... |
OMIM:146000 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... |
ORPHA:280679 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Small hand, Hypogonadism, Kyphosis, Decreased testicular size, Short stature, Delaye... |
OMIM:300354 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Leydig Cell Hypoplasia |
|
Primary gonadal insufficiency, Testicular gonadoblastoma, Ambiguous genitalia, Female hypogonadis... |
ORPHA:755 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Short stature, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hy... |
ORPHA:1643 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria |
OMIM:615605 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Severe platyspondyly,... |
OMIM:608940 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Hypogonadism, Large for gestational age, Postaxial foot polydactyly, Obesity |
OMIM:617119 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Small hand, Clinodactyly, Obesity, Intrauterine growth retardation, Short foo... |
ORPHA:254525 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Microsc... |
OMIM:619525 |
Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thoracolumbar scoliosis, 2-3 toe syndactyly, Short toe, Patellar hypoplasia, Hypogonadism, Hypere... |
ORPHA:3041 |
Schaaf-Yang Syndrome |
|
Tapered finger, Small hand, Hypogonadism, Kyphosis, Inability to walk, Short stature, Clinodactyl... |
OMIM:615547 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, Nephrocalcinosis, ... |
OMIM:616026 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Renal insufficiency, Glomerulopathy, Proteinuria |
ORPHA:225 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short stature, Hypogonadism, Epiphyseal stippling, Abnormality of the vertebral column, Short dis... |
OMIM:302950 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Decreased fertility, Hypogonadism, Short stature, Clinodactyly of the 5th finger, Supernumerary n... |
ORPHA:1173 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Growth delay, Hypogonadism |
ORPHA:2528 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Three M Syndrome 1 |
|
Hyperlordosis, Short 5th finger, Increased vertebral height, Short stature, Decreased testicular ... |
OMIM:273750 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Azoospermia, Abnormality of the vertebral column, Hypoplasia of... |
OMIM:601076 |
Acrodysostosis |
|
Irregular menstruation, Short toe, Abnormality of female external genitalia, Hypogonadism, Short ... |
ORPHA:950 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Postaxial foot polydactyly, Diabetes mellitus, Postaxi... |
OMIM:615981 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Small hand, Clinodactyly, Obesity, Maturity-onset diabetes of the young, Scol... |
ORPHA:254531 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Biconvex vertebral bodies, Metaphyseal cupping, Short metaca... |
OMIM:184260 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Type I diabetes mellitus, Proteinuria, Chronic ki... |
ORPHA:275555 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Moynahan Syndrome |
|
Short stature, Hypogonadism |
ORPHA:2574 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Postaxial polydactyly, Hypogonadism |
OMIM:615985 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o... |
ORPHA:93316 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
Perrault Syndrome 3 |
|
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... |
OMIM:614129 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Hypoplasia of penis, ... |
ORPHA:181393 |
Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis |
OMIM:614962 |
Cornelia De Lange Syndrome 5 |
|
Small hand, Hypogonadism, Short stature, Toe syndactyly, Decreased testicular size, Clinodactyly ... |
OMIM:300882 |
Marinesco-Sjogren Syndrome |
|
Gait ataxia, Coxa valga, Short metacarpal, Kyphosis, Short stature, Limb ataxia, Ataxia, Failure ... |
OMIM:248800 |
Lessel-Kubisch Syndrome |
|
Short stature, Hypogonadism |
OMIM:618681 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:603278 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Hyperlordosis, Short long bone, Squared... |
ORPHA:93352 |
Marinesco-Sjögren Syndrome |
|
Metatarsus valgus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Hypogonadism,... |
ORPHA:559 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Epiphysea... |
OMIM:614732 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Hump-shaped mound of bone in central and posterior portions of vertebral ... |
OMIM:313400 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Cryptorchidism, Brachydactyly, Obesity, Postaxial polydactyly |
OMIM:615633 |
Camurati-Engelmann Disease, Type 2 |
|
Thoracolumbar scoliosis, Hip contracture, Hypogonadism, Delayed puberty, Waddling gait |
OMIM:606631 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Short foot, Hypogonadism, Small hand, Toe syndactyly, Decreased testicul... |
ORPHA:85293 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Epiphyseal stippling, Mild postnatal growth retardation, Hypoplastic ver... |
OMIM:101800 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Aromatase Deficiency |
|
Genu valgum, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus,... |
ORPHA:91 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Type I diabetes mellitus, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small hand, Short stature, Small for gestational age, Clinodactyly, Obesity, ... |
ORPHA:96184 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Thyroiditis, Delayed puberty, Decreased serum insulin-like growth factor 1, Postna... |
OMIM:618985 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Patellar hypoplasia, Scoliosis, Hypogonadism |
OMIM:251240 |
Ring Chromosome 22 Syndrome |
|
Gait ataxia, 2-3 toe syndactyly, Azoospermia, Growth delay |
ORPHA:1446 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia |
ORPHA:664 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Hyperglycemia, E... |
ORPHA:69076 |
Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Obesity, Postaxial polydactyly, Hypogonadism |
OMIM:615996 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Gait imbalance, Postural tremor, Secondary am... |
ORPHA:79239 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Shawl scrotum, Hypoplasia o... |
ORPHA:2256 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Hypogonadism, Postural tremor, Truncal ataxia, Type II diabetes mellitus, Inferti... |
ORPHA:412057 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Short long bone, Coarse metaphyseal trabecularization, Lumbar pla... |
OMIM:618961 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Short long bone, Maternal diabetes, Delayed ossification of carpal bones,... |
ORPHA:93346 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Decreased body weight, Small hand, Short stature, Small for gestational age,... |
OMIM:616489 |
Achondroplasia |
|
Wide anterior fontanel, Kyphosis, Short long bone, Rhizomelia, Flat acetabular roof, Narrow great... |
ORPHA:15 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypoglycemic seizures, Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, S... |
OMIM:262600 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism, Rocker bottom foot |
ORPHA:85283 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Tapered finger, Hypogonadism, Short stature, Decreased testicular size, Camptodactyly ... |
ORPHA:127 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism |
OMIM:615234 |
Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Aplasia/hypoplasia involving bones of the extremities, Short neck, Disproportionate ... |
ORPHA:94068 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Short femoral neck, Short metacarpal, Small hand, Small for gestational age, ... |
OMIM:614813 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Intervertebral space narrowing, Capitate-hamate fusion, Short metacarpal,... |
OMIM:614078 |
Stuve-Wiedemann Syndrome 2 |
|
Short long bone, Camptodactyly, Scoliosis, Bowing of the long bones, Intrauterine growth retardation |
OMIM:619751 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Short stature, Small for gestational age, Clinodactyly, Clinodactyly of the 5th fin... |
ORPHA:73272 |
Bloom Syndrome |
|
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Hand polyda... |
OMIM:210900 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Hypothyroidism, Abnormality of the scrotum, Short 5th finger, Bifid scrotum, Microph... |
ORPHA:397590 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Short stature, Short long bone, Cuboid-shaped vertebral bodies, Rhizo-meso-acromelic limb shorten... |
ORPHA:163654 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Gait ataxia, Decreased circulating follicle stimulating hormone concentration, Dysdiadochokinesis... |
OMIM:619761 |
Autosomal Dominant Cerebellar Ataxia |
|
Akinesia, Postural tremor, Resting tremor, Torticollis, Choreoathetosis, Gait disturbance, Azoosp... |
ORPHA:99 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Hip dislocation, Shor... |
OMIM:615777 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Hypoplastic ilia, Short stature, Short long bone, Delayed vertebral ossificati... |
ORPHA:93296 |
Silver-Russell Syndrome |
|
Precocious puberty, Abnormality of the calcaneus, Short stature, Decreased testicular size, Postn... |
ORPHA:813 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Narrow pelvis bone, Truncal obesity, Pseudoepiphyses of the metacarpals, Post... |
OMIM:210720 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Rhizo-meso-acromelic limb shortening, Short neck, Anterior scalloping of... |
OMIM:611717 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Hypogonadism, Short stature, Hypoplasia of penis, Azoospermia, Growth delay, Crypt... |
ORPHA:251066 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Dispropo... |
ORPHA:93315 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... |
OMIM:610628 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormality of the kidne... |
ORPHA:552 |
Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis, Type I diabetes mellitus |
OMIM:619858 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypogonadism, Short stature, Hypoplasia of penis, Hypoplasia of the ovary, Sho... |
ORPHA:110 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Primary amenorrhea, Small pituitary gland, Delayed puberty, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:612702 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Dispropor... |
OMIM:300106 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Vertebral segmentation defect, Hip dysplasia, Scoliosis, Difficulty walking, Cryptor... |
ORPHA:531151 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, Perineal hypospadias, True hermaphroditism... |
OMIM:278850 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... |
ORPHA:3143 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ... |
ORPHA:85443 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Hypoglycemia, Proteinuria |
ORPHA:369 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Hypogonadism |
OMIM:615267 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
Acrocephalopolydactyly |
|
Brachydactyly, Short neck, Short long bone |
ORPHA:221054 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Short 5th metacarpal, Short stature, Large tarsal bones, Short long bone... |
OMIM:215150 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip... |
OMIM:206920 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Hypoglycemi... |
OMIM:617575 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Hypogonadism, Kyphosis, Hypoplasia of penis, Spina bifida occulta, Short neck, Small... |
ORPHA:2983 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Hypothyroidism, Short metacarpal, Hypogonadism, Short stature, Short finger, Elevated ... |
OMIM:103580 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... |
ORPHA:263455 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia |
OMIM:300559 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Short metacarpal,... |
OMIM:612462 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Metaphyseal cupping, Severe platyspondyly, Short stature, Short long bone,... |
OMIM:613320 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Wide anterior fontanel, Shortening of all distal ph... |
OMIM:619135 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
Fanconi Anemia |
|
Abnormal testis morphology, Toe syndactyly, Hip dislocation, Abnormal preputium morphology, Bicor... |
ORPHA:84 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Abnormality of the epiphysis of the femoral head, Enlarged epiphyses, ... |
ORPHA:485 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short stature, Short long bone, Scoliosis, Brachydactyly |
OMIM:613819 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
OMIM:618160 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
H Syndrome |
|
Hallux valgus, Hypogonadism, Short stature, Decreased testicular size, Camptodactyly, Azoospermia... |
ORPHA:168569 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Butterfly vertebrae, Short neck, Postnatal growth retardation, Hypoplasia of the c... |
OMIM:611209 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Short stature, Short long bone, Femoral bowing, Syndactyly, Failure to thriv... |
OMIM:615503 |
Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Hypoplastic ilia, Severe platyspondyly, Short long bone, Femoral bowing... |
OMIM:187600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Short long bone |
OMIM:618845 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Glycosuria, Stage 5 chronic kidney ... |
OMIM:300009 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria, Type I diabetes mellitus |
ORPHA:69126 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Growth delay, Abnormality of th... |
ORPHA:300298 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Hypoplastic ischi... |
OMIM:614524 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Pancreatic hypoplasia, Decreased response to growth hormone stimulation ... |
OMIM:602782 |
Ruijs-Aalfs Syndrome |
|
Decreased body weight, Hypogonadism, Short stature, Clinodactyly, Down-sloping shoulders, Thoraci... |
OMIM:616200 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Short... |
OMIM:269250 |
Systemic Sclerosis |
|
Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren... |
ORPHA:90291 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short 4th metacarpal, Camptodactyly, Broad hallux, Ovoid vertebral bodies, Thoracic platyspondyly... |
OMIM:618019 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398069 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epi... |
OMIM:618150 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Cone-shaped epiphysis, Short stature, Short long bone, Absent tibia, Short d... |
OMIM:613091 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Hypoplastic vertebral bodies, Short toe, Short metatarsal, Narrow verteb... |
ORPHA:280651 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Kyphosis, Short long bone, Short stature, Hypoplastic inferior ilia, Hip dis... |
ORPHA:140 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
Camurati-Engelmann Disease |
|
Coxa valga, Cachexia, Cortical thickening of long bone diaphyses, Slender build, Genu valgum, Abn... |
ORPHA:1328 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Glycosuria, Stage 5 chronic kidney disease, Renal sodiu... |
ORPHA:3337 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
16P13.2 Microdeletion Syndrome |
|
Small hand, Hypogonadism, Kyphosis, Short stature, Hip dysplasia, Gait disturbance, Failure to th... |
ORPHA:500055 |
Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Diabetes mellitus, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kid... |
OMIM:613845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Chronic kidney disease, Renal cyst, ... |
ORPHA:97362 |
Renal Cysts And Diabetes Syndrome |
|
Impaired glucose tolerance, Glycosuria, Stage 5 chronic kidney disease, Abnormality of the kidney... |
OMIM:137920 |
Crandall Syndrome |
|
Hypoplasia of penis, Hypogonadism, Abnormal testis morphology |
ORPHA:202 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Anisospondyly, Severe short stature, Disproportionate short-limb short stature, ... |
OMIM:224410 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hypogonadism, Mesoaxial polydactyly, Obesity, Postaxial foot polydactyly, Brachydact... |
OMIM:615994 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria |
OMIM:613404 |
Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Short stature, Hypopituitarism, ... |
OMIM:615849 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612924 |
Cystinosis |
|
Aminoaciduria, Type I diabetes mellitus, Nephropathy, Proteinuria, Renal insufficiency, Renal tub... |
ORPHA:213 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes mellitus, Glycosu... |
ORPHA:2298 |
Sponastrime Dysplasia |
|
Hip subluxation, Hypothyroidism, Precocious puberty, Flat capital femoral epiphysis, Hip dislocat... |
ORPHA:93357 |
Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Preaxial hand polydactyly, Decreased response to growth hormone stimulation test,... |
ORPHA:96179 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Anisospondyly, Clubbing of fingers, Hy... |
ORPHA:1865 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612926 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome |
OMIM:215250 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation |
OMIM:110100 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly, Obesity, Hypogonadism |
OMIM:616629 |
Myhre Syndrome |
|
Precocious puberty, Hypogonadism, Large iliac wing, External genital hypoplasia, Intrauterine gro... |
ORPHA:2588 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short long bone, Epispadias, Cone-sh... |
OMIM:225500 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hyperlordosis, Metaphyseal irregularity, Genu valgum, Tapered finger, Decreased response to growt... |
OMIM:616007 |
Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Angulated humerus, Short long bone, Small for gestational age, Short stature, Platysp... |
OMIM:616229 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Abnormal pelvis bone oss... |
ORPHA:1505 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Irregular vertebral endplates, Hip contracture, Hypogonadism, Posterior scalloping of vertebral b... |
ORPHA:3042 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Fanconi Anemia, Complementation Group B |
|
Absent thumb, Hypogonadism, Bilateral radial aplasia, Abnormal vertebral morphology, Short neck, ... |
OMIM:300514 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Small for gestational age, Azoospermia, Oligospermia, Diabetes m... |
ORPHA:125 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Bicornuate uterus, Short long bone, Short neck, Narrow greater sciatic no... |
OMIM:263210 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora... |
ORPHA:95699 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Short foot, Wide anterior fontanel, Short long bone, Small hand, Rhizo... |
OMIM:228520 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Short stature, Decreased testicular size, Ataxia, Failure to thrive, Tremor, Decrea... |
OMIM:201100 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hy... |
ORPHA:2990 |
Opsismodysplasia |
|
Short phalanx of finger, Metaphyseal cupping, Hypoplastic pubic bone, Short foot, Short metacarpa... |
OMIM:258480 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Short long bone, Camptodactyly, Adducted thumb, Severe sho... |
OMIM:224400 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Short stature, Short long bone, Cone-shaped epiphyses of the phalanges of the hand, ... |
OMIM:615630 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal cupping, Hip contracture, Short long bone, Clinodactyly of the 5th finger, Clubbing o... |
OMIM:156400 |
Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Complete duplication of thumb phalanx, Short stature, Small for gestational age, Ma... |
OMIM:227650 |
Xylt1-Cdg |
|
Coxa valga, Short femoral neck, Short stature, Short long bone, Clinodactyly, Flared metaphysis, ... |
ORPHA:370930 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Postaxial hand polydactyly, Abnormal form of the ve... |
ORPHA:1106 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Bardet-Biedl Syndrome 1 |
|
Gait imbalance, Hypogonadism, Foot polydactyly, Decreased testicular size, Abnormality of the ova... |
OMIM:209900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Advanced ossification of carpal bones, Coxa valga, Hallux valgus, Large iliac wi... |
OMIM:271640 |
Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Short tubular bones of the hand, Short long bone, Absent vertebral body m... |
OMIM:200610 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Growth delay, Hypogonadism |
OMIM:618165 |
Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Hypogonadism, Hand polydactyly, Failure to thrive, Severe short stature |
ORPHA:2316 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Short femoral neck, Short stature, Short l... |
OMIM:602152 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short stature, Short long bone, Flat acetabular roof, Syndactyly, Hypospadias, Brach... |
OMIM:614091 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:618347 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Cachexia, Azoospermia, Limb ataxia, Broad-based gait, Delayed puberty, Scoliosis, ... |
ORPHA:2072 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Dia... |
ORPHA:439232 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly, Hypogonadism, Hydrometrocolpos, Postaxial foot polydactyly, Vaginal atresia, Postaxi... |
OMIM:615989 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Short long bone, Hypospadias, Scoliosis, Brachydactyly, Short palm, Intrauterine growth retardati... |
OMIM:619184 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... |
ORPHA:261222 |
Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Metaphyseal sclerosis, Hypogonadis... |
ORPHA:2905 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
ORPHA:436271 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... |
ORPHA:33001 |
Gm1 Gangliosidosis Type 1 |
|
Broad long bone diaphyses, Exaggerated startle response, Short long bone, Flattened femoral head,... |
ORPHA:79255 |
Campomelic Dysplasia |
|
Short phalanx of finger, Hallux valgus, Hip dislocation, Metatarsus adductus, Dislocated radial h... |
OMIM:114290 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Dicarboxylic aciduria, Neonatal hypoglycemia, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Oculocerebrorenal Syndrome Of Lowe |
|
Diabetes insipidus, Genu valgum, Hyperaldosteronism, Abnormal calcium-phosphate regulating hormon... |
ORPHA:534 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Flared iliac wing, Atlantoaxial dislocation, Camptodactyly, Hip disl... |
OMIM:252500 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hypoglycemia, Decreased glomerular filtration rate, Fasting hypoglycemia, Protei... |
OMIM:232200 |
Mucolipidosis Iii Alpha/Beta |
|
Short stature, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Split hand, Soft ... |
OMIM:252600 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Myhre Syndrome |
|
2-3 toe syndactyly, Camptodactyly, Overlapping toe, Radial deviation of finger, Short neck, Hypop... |
OMIM:139210 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Progressive calcification of costochondral cartilage, F... |
OMIM:271665 |
Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... |
OMIM:256550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
OMIM:220110 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Short long bone, Torticollis, Femoral bowing, Adducted thumb, Short nec... |
OMIM:617022 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
X-Linked Intellectual Disability, Seemanova Type |
|
Small for gestational age, Hypogonadism, Cryptorchidism |
ORPHA:85323 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Tetraphocomelia, Epiphyse... |
OMIM:215140 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Camptodactyly, Hypoplastic iliac b... |
OMIM:601559 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... |
OMIM:300554 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Hypothyroidism, Metaphyseal ... |
ORPHA:221008 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
Cockayne Syndrome A |
|
Irregular menstruation, Hypoplastic iliac wing, Thymic hormone decreased, Hip contracture, Hypogo... |
OMIM:216400 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Diphallia |
|
Absent thumb, Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal f... |
ORPHA:227 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Genu valgum, Femoroacetabular impingement, Abnormal lower... |
ORPHA:321 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Hypogona... |
ORPHA:2658 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ... |
ORPHA:85450 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Insulin-resistant diabetes mellitus, Proteinuria |
ORPHA:79086 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycysti... |
ORPHA:157 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Ambiguous genitalia, Rhizomelia, Short long bone, Flat acetabular roof, Hypoplastic ... |
OMIM:616300 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria |
OMIM:171420 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Hematuria, Nephritis |
OMIM:614034 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome |
ORPHA:330001 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... |
ORPHA:91351 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... |
ORPHA:93126 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Elevate... |
ORPHA:276621 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... |
OMIM:607426 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:91138 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad hallux, Short hallux, Short neck, Postaxial hand polydactyly, Rocker bottom... |
OMIM:304120 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal... |
ORPHA:228308 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Hypoglycemia, Decreased glomerular filtration rate, Proteinuria, Focal segmental... |
OMIM:232220 |
Ulbright-Hodes Syndrome |
|
Short sternum, Ovoid thoracolumbar vertebrae, Humeroradial synostosis, Short metacarpal, Hypoplas... |
ORPHA:3404 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Ketotic hypoglycemia, Recurrent hypoglycemia, Fasting hypoglycemia, Myogl... |
ORPHA:79240 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Decreased urinary potassium, Renal tubular ac... |
ORPHA:358 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia, Myoglobinuria |
OMIM:609015 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... |
ORPHA:93552 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... |
ORPHA:18 |
Cog1-Cdg |
|
Coxa valga, Rhizomelia, Short long bone, Vertebral segmentation defect, Flat acetabular roof, But... |
ORPHA:263508 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Low-molecul... |
ORPHA:411629 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot... |
OMIM:277400 |
Short-Rib Thoracic Dysplasia 12 |
|
Short toe, Ambiguous genitalia, Short foot, Bowing of the arm, Short long bone, Short finger, Hyp... |
OMIM:269860 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hyperphosphaturia, Hematuria, Medullar... |
OMIM:219800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Absent gallbladder, Hypoplastic pubic bone, Wide anterior fontanel, Short long bone,... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Ambiguous genitalia, Short l... |
OMIM:263520 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short long bone, Small pituitary gland, Hypospadias, Disproportionate short-limb short stature, B... |
OMIM:619479 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H... |
ORPHA:572333 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... |
ORPHA:1830 |
Glycogen Storage Disease Ic |
|
Hematuria, Hypoglycemia, Decreased glomerular filtration rate, Proteinuria, Renal insufficiency, ... |
OMIM:232240 |
Noonan Syndrome 1 |
|
Hypogonadism, Short stature, Clinodactyly, Hypospadias, Male infertility, Radial deviation of fin... |
OMIM:163950 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:36412 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria |
OMIM:274150 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Fabry Disease |
|
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria |
OMIM:301500 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Wide anterior fontanel, Kyphosis, Short long bone, Hip dysplasia, Anteri... |
OMIM:249420 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:713 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Hypoplastic labia majora, Dislocated radial head, Radial deviation of finger, Short neck, Short p... |
OMIM:180700 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Hematuria |
ORPHA:90060 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Short long bone, Hydrometrocolpos, Aplasia of the epiglottis, Brachydactyly, Vagin... |
OMIM:617088 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
Melas |
|
Proximal tubulopathy, Type II diabetes mellitus, Type I diabetes mellitus, Diabetes mellitus, Nep... |
ORPHA:550 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephritis, Nephriti... |
ORPHA:91139 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Myoglobinuria, Renal tubular acidosis |
ORPHA:264580 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Renal insufficiency, Focal segme... |
OMIM:242900 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Myoglobinuria, Ketonuria |
OMIM:616878 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Glomerular sclerosis, Thicken... |
OMIM:619487 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Proteinuria, Focal segment... |
OMIM:617303 |
Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy |
ORPHA:556 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Hematuria |
OMIM:192315 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
Galloway-Mowat Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:2065 |
Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Coxa valga, Short foot, Short stature, Short long bone, Irregular capita... |
OMIM:231050 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis |
OMIM:171300 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:183 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Myoglobinuria, Renal tubular acidosis |
ORPHA:370 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... |
OMIM:277900 |
Renal Nutcracker Syndrome |
|
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit... |
ORPHA:2614 |
Pyknoachondrogenesis |
|
Unossified sacrum, Short long bone, Poorly ossified vertebrae, Short iliac bones, Aplastic pubic ... |
ORPHA:3003 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease |
ORPHA:1018 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse mesangial scler... |
OMIM:617729 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria, Hypospadias |
OMIM:619147 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Glycosuria, Hemoglobinuria, Acute kidney injury, Proteinuria, Hemosiderinuria, Renal insufficienc... |
ORPHA:447 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Enlarged kidney, Proteinuria, Urinary glycosaminoglycan excretion, Heavy prot... |
ORPHA:505248 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hypoglycemic seizures, Hypoglycemia, Proteinuria... |
ORPHA:79259 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Proximal tubulopathy, Proteinuria, Nephrotic syndrome |
OMIM:212065 |
Spondyloenchondrodysplasia |
|
Proteinuria, Hematuria, Chronic kidney disease |
ORPHA:1855 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Proteinuria, Chordee |
OMIM:300519 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De... |
ORPHA:340 |
Gaucher Disease Type 1 |
|
Proteinuria, Hematuria |
ORPHA:77259 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Hypoglycemia, Abnormality of the urinary system, Proteinuria |
ORPHA:2162 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:251300 |
Hellp Syndrome |
|
Acute kidney injury, Hemoglobinuria, Proteinuria |
ORPHA:244242 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
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 |
|
Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease |
OMIM:208500 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro... |
ORPHA:470 |
Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... |
OMIM:122470 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:99413 |
Mosaic Monosomy X |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:99228 |
Monosomy X |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:99226 |
Turner Syndrome |
|
Primary amenorrhea, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:881 |
Pearson Syndrome |
|
Glycosuria, Lacticaciduria, Renal cyst, Diabetes mellitus, Proteinuria, Renal insufficiency |
ORPHA:699 |
Agel Amyloidosis |
|
Stage 5 chronic kidney disease, Proteinuria |
ORPHA:85448 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Urinary incontinence, Proteinuria, Myoglobinuria |
ORPHA:94093 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Diabetes mellit... |
ORPHA:544482 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:761 |
Cockayne Syndrome |
|
Urinary incontinence, Nephrotic syndrome, Neurogenic bladder, Unilateral renal agenesis, Abnormal... |
ORPHA:191 |
Fabry Disease |
|
Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Pro... |
ORPHA:324 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Proteinuria |
ORPHA:90068 |
Cystic Fibrosis |
|
Failure to thrive, Male infertility, Clubbing of fingers |
OMIM:219700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis, Glucose intolerance |
OMIM:619127 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:342 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Hematuria, Ureteral stenosis, Proteinuria, Renal insufficiency, Hydronephrosis |
ORPHA:900 |
Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... |
ORPHA:91500 |
Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... |
OMIM:609049 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... |
OMIM:309000 |
Gaucher Disease Type 3 |
|
Proteinuria, Hematuria |
ORPHA:77261 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco... |
OMIM:233450 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:728 |
Williams Syndrome |
|
Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Type II diabetes me... |
ORPHA:904 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hemoglobinuria, Anuria |
ORPHA:90038 |
Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
Postinfectious Vasculitis |
|
Glomerulonephritis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
Kawasaki Disease |
|
Sterile pyuria, Proteinuria |
ORPHA:2331 |
Gaucher Disease |
|
Proteinuria, Hematuria |
ORPHA:355 |
Crimean-Congo Hemorrhagic Fever |
|
Proteinuria, Hematuria |
ORPHA:99827 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
Pmm2-Cdg |
|
Hyperinsulinemia, Nephrotic syndrome, Abnormal renal tubule morphology, Insulin resistance, Multi... |
ORPHA:79318 |