Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
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Infertility |
OMIM:617234 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
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Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Lipodystrophy, Familial Partial, Type 1 |
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Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su... |
OMIM:608600 |
Asherman Syndrome |
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Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Spermatogenic Failure 12 |
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Infertility, Azoospermia |
OMIM:615413 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... |
ORPHA:99886 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... |
OMIM:604367 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
46,Xy Sex Reversal 3 |
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Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... |
OMIM:277000 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Renal Hypodysplasia/Aplasia 3 |
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Vesicoureteral reflux, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, H... |
OMIM:617805 |
46,Xx Ovotesticular Difference Of Sex Development |
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Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
Familial Hyperprolactinemia |
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Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G... |
OMIM:273250 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Hypogonadism-Cataract Syndrome |
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Infertility, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:266810 |
Prolactin Deficiency, Isolated |
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Infertility, Irregular menstruation |
OMIM:264110 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
Caudal Duplication Anomaly |
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Uterus didelphys, Ureteral duplication |
OMIM:607864 |
Type 1 Diabetes Mellitus |
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Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Leydig Cell Hypoplasia |
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Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
Mullerian Aplasia And Hyperandrogenism |
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Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... |
OMIM:158330 |
46,Xy Sex Reversal 7 |
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Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Loss ... |
OMIM:151660 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... |
ORPHA:1916 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... |
OMIM:194072 |
Testicular Agenesis |
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Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
Partial Androgen Insensitivity Syndrome |
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Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
Premature Ovarian Failure 7 |
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Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
Mody |
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Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... |
ORPHA:552 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... |
OMIM:608612 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus |
OMIM:601076 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hematuria, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, Uterus didelphys, Ne... |
OMIM:146255 |
Vaginal Atresia |
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Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia |
ORPHA:2089 |
Perrault Syndrome 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... |
ORPHA:3109 |
Short Syndrome |
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Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... |
OMIM:269880 |
Lumbar Syndrome |
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Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... |
ORPHA:83628 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia |
OMIM:604484 |
46,Xx Sex Reversal 2 |
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Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
Perrault Syndrome 3 |
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Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
Donohue Syndrome |
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Hyperinsulinemia, Fasting hypoglycemia, Adipose tissue loss, Hyperglycemia, Postprandial hypergly... |
OMIM:246200 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Greig Cephalopolysyndactyly Syndrome |
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Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... |
OMIM:175700 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia |
OMIM:617466 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose tissue around t... |
OMIM:248370 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Premature Ovarian Failure 18 |
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Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Aplasia of the ute... |
ORPHA:2237 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... |
OMIM:154230 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Hyperglycemia |
OMIM:619737 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Glycosuria, Hyperglycemia,... |
ORPHA:2298 |
Meckel Syndrome 12 |
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Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia |
OMIM:616258 |
Microcephaly 20, Primary, Autosomal Recessive |
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Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... |
ORPHA:168558 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... |
ORPHA:289548 |
Oeis Complex |
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Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... |
OMIM:258040 |
Bardet-Biedl Syndrome 9 |
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Hyperglycemia |
OMIM:615986 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia |
ORPHA:681 |
Chromosome 17Q12 Deletion Syndrome |
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Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... |
OMIM:614527 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... |
ORPHA:432 |
Perrault Syndrome 4 |
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Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Hypoglycemia, Hyperglycemia |
OMIM:615453 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Hyperglycemia, Flexion contracture, Hypoglycemia, Diabetes m... |
OMIM:609069 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Unilateral renal agenesis, Nephrolithiasis, Renal cyst, Bicornuate uterus, Glycosuri... |
OMIM:137920 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyp... |
ORPHA:2088 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... |
OMIM:271520 |
Microphthalmia, Syndromic 9 |
|
Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Neonatal death, Hydronephrosis, Cryptorchidis... |
OMIM:601186 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... |
ORPHA:322 |
Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Inguinal hernia |
ORPHA:440713 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Reduced subcutaneous adipose tissue, Diabetic k... |
ORPHA:769 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... |
ORPHA:90794 |
Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Horseshoe kidney |
ORPHA:3320 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Mitchell-Riley Syndrome |
|
Diabetes mellitus, Hyperglycemia |
OMIM:615710 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia |
ORPHA:134 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hyperglycemia |
ORPHA:465508 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Glycosuria, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:227810 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia |
ORPHA:90065 |
Fanconi Anemia, Complementation Group L |
|
Renal hypoplasia, Aplasia of the uterus, Micropenis, Unilateral renal agenesis |
OMIM:614083 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Glycosuria, Hyperglycemia, Arthrogryposis multiplex congenita, Neon... |
ORPHA:99885 |
Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... |
OMIM:618280 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia |
OMIM:620423 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... |
OMIM:241080 |
Atypical Werner Syndrome |
|
Lipoatrophy, Hyperinsulinemia, Generalized lipodystrophy, Glycosuria, Hyperglycemia, Type II diab... |
ORPHA:79474 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Hypoplasia of the uterus, Hyp... |
OMIM:618419 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ... |
OMIM:600001 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperglycemia |
ORPHA:3008 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:203800 |
Leprechaunism |
|
Hyperinsulinemia, Fasting hypoglycemia, Reduced subcutaneous adipose tissue, Insulin resistance, ... |
ORPHA:508 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Aplasia of the uterus, Horseshoe kidney, Vesicoureteral reflux |
OMIM:274000 |
Hydrolethalus Syndrome 1 |
|
Stillbirth, Hypospadias, Abnormal vagina morphology, Hydronephrosis, Bifid uterus |
OMIM:236680 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... |
OMIM:107480 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo... |
OMIM:135900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia |
OMIM:124000 |
Okamoto Syndrome |
|
Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Bifid uterus, Unilatera... |
ORPHA:2729 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Neu-Laxova Syndrome 1 |
|
Stillbirth, Cryptorchidism, Neonatal death, Bifid uterus |
OMIM:256520 |
Scorpion Envenomation |
|
Glycosuria, Hyperglycemia |
ORPHA:466677 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia, Inguinal hernia |
OMIM:220111 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:79102 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia |
ORPHA:293987 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, Hydronephrosis, Hypopla... |
OMIM:261540 |
Peters Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia, Hydronephrosis,... |
ORPHA:709 |
Pallister-Killian Syndrome |
|
Stillbirth, Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, R... |
OMIM:601803 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... |
ORPHA:286 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Impaired fasting glucose, Type II diabetes mellitus |
ORPHA:110 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |