Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... |
ORPHA:752 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Abnormal female external genitalia morph... |
ORPHA:90790 |
Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... |
OMIM:202110 |
Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... |
OMIM:264300 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal |
OMIM:614279 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia |
OMIM:613571 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Short stature, Macroorchidism |
OMIM:300428 |
Frasier Syndrome |
|
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr... |
ORPHA:91 |
Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... |
ORPHA:785 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:769 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis |
ORPHA:220 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, ... |
ORPHA:2075 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:3085 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ... |
ORPHA:96181 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... |
OMIM:194080 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal... |
OMIM:201910 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Oligomenorrhea, Hypert... |
ORPHA:280356 |
Leprechaunism |
|
Clitoral hypertrophy, Long penis, Central hypothyroidism, Failure to thrive, Overgrowth of extern... |
ORPHA:508 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... |
ORPHA:261529 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
Currarino Syndrome |
|
Male pseudohermaphroditism, Hypospadias, Hypoplasia of penis, Bifid scrotum |
ORPHA:1552 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism, Obesity |
OMIM:300238 |
Polyembryoma |
|
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... |
ORPHA:180229 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... |
ORPHA:100 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... |
ORPHA:1643 |
Atkin-Flaitz Syndrome |
|
Short stature, Macroorchidism, Obesity |
ORPHA:1193 |
Megalencephaly |
|
Macroorchidism, Long penis, Truncal obesity |
ORPHA:2477 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Bruising susceptibility, Primary hypercortisolism, Dorsocer... |
OMIM:615830 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Male pseudohermaphroditism, Short stature, Shawl... |
ORPHA:2282 |
Rudiger Syndrome |
|
Micropenis, Death in infancy, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... |
OMIM:610475 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries |
ORPHA:79084 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Cryptorchidism, Death in infancy, Male pseudohermaphroditism, ... |
ORPHA:847 |
17Q11.2 Microduplication Syndrome |
|
Short stature, Macroorchidism |
ORPHA:139474 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Bruising susceptibility, Decreased circulating ACTH concent... |
OMIM:219080 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... |
ORPHA:8 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Severe short stature, Intrauterine growth retardation, Male pseudohermaphroditism |
ORPHA:1422 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Macroorchidism, Truncal obesity, Polycystic ovaries |
ORPHA:284180 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Short stature, Macroorchidism, Obesity |
ORPHA:3077 |
Meacham Syndrome |
|
Septate vagina, Death in childhood, Death in infancy, Neonatal death, Male pseudohermaphroditism,... |
OMIM:608978 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618117 |
Nivelon-Nivelon-Mabille Syndrome |
|
Severe short stature, Male pseudohermaphroditism |
OMIM:600092 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Opitz Gbbb Syndrome |
|
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Short stature,... |
ORPHA:2745 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... |
ORPHA:247768 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Failure to thrive, In... |
ORPHA:90674 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr... |
ORPHA:335 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... |
ORPHA:189427 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity |
OMIM:300602 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid... |
ORPHA:404 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Postnatal growth retardation, Small for gestational age, Cryptorchidism |
ORPHA:319332 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... |
ORPHA:254516 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceri... |
OMIM:604367 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Erythema, Clitoral hypertrophy, Severe short stature, Growth delay, Fa... |
ORPHA:2556 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... |
ORPHA:528 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Abnormal circulatin... |
ORPHA:90794 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Pancreatic adenocarcinoma, Cervix cancer |
ORPHA:2869 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... |
OMIM:614662 |
Donohue Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Postnatal growth retardation, Hyperinsuline... |
OMIM:246200 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
Distal Deletion 10P |
|
Intrauterine growth retardation, Cryptorchidism, Polycystic ovaries, Short stature, Hypoplasia of... |
ORPHA:1580 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
Campomelic Dysplasia |
|
Short stature, Male pseudohermaphroditism, Ambiguous genitalia |
ORPHA:140 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... |
OMIM:614732 |
Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Short statu... |
ORPHA:1867 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Death in infancy, Hypothyroidism,... |
ORPHA:95496 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... |
OMIM:202150 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... |
OMIM:300200 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Short stature, Secondary amenorrhea, Hyp... |
OMIM:268020 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Prenatal death, Neonatal death |
OMIM:618393 |
46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... |
OMIM:615300 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Obesity, Macroorchidism |
OMIM:300055 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Abnormality of the ut... |
ORPHA:201 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism, Neonatal death |
OMIM:615524 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:435651 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
46,Xy Sex Reversal 5 |
|
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... |
OMIM:613080 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal |
OMIM:611812 |
Familial Hyperaldosteronism Type Iii |
|
Abnormal circulating renin, Left ventricular hypertrophy, Adrenal hyperplasia, Glucocortocoid-ins... |
ORPHA:251274 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... |
OMIM:266810 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... |
OMIM:158330 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
Amed Syndrome, Digenic |
|
Short stature, Hypoplasia of the uterus, Adrenal hypoplasia, Failure to thrive |
OMIM:619151 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Preeclampsia |
|
Type I diabetes mellitus, Intrauterine growth retardation, Polycystic ovaries, Increased body mas... |
ORPHA:275555 |
Meckel Syndrome |
|
Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genitalia, Pancreatic... |
ORPHA:564 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... |
ORPHA:96184 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Growth delay, Bilateral cryptorchidism, Decreased testicular size, Cyanosis, Hypogonadotropic hyp... |
ORPHA:2326 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... |
OMIM:194072 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydr... |
OMIM:615108 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Severe failure to thrive, Cryptorchidism |
ORPHA:3304 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia |
ORPHA:369929 |
Cowden Syndrome 6 |
|
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyr... |
OMIM:615109 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Death in infancy, Neonatal death, Short stature, Mis... |
OMIM:613390 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage |
ORPHA:99927 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
Cushing Disease |
|
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Adren... |
ORPHA:96253 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... |
ORPHA:556037 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Macroorchidism, Hypospadias, Failure to thrive |
OMIM:618874 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cryptorchidism, Death in infancy, Neonatal death |
OMIM:613730 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... |
ORPHA:556030 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Adren... |
ORPHA:99889 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Growth delay, Aplasia/hypoplasia of the uterus,... |
ORPHA:2232 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature |
ORPHA:3063 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico... |
OMIM:610600 |
Filippi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Decreased body wei... |
OMIM:272440 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Sex reversal |
OMIM:613743 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Prominent veins on trunk, Hypertriglyceridemia, Splenomegaly... |
ORPHA:79083 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... |
OMIM:300845 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Aplasia/Hypoplasia of the thymus, Failure to thrive, Polycystic ovaries, Ab... |
ORPHA:2176 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Decreased circulating T4 concentration, Intrauterine growth retardation, Crypt... |
OMIM:608104 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Postnatal growth retardation, Obesity, Intrauterine growth retardation |
ORPHA:254525 |
Silver-Russell Syndrome 3 |
|
Postnatal growth retardation, Decreased body weight, Ambiguous genitalia, Penoscrotal hypospadias... |
OMIM:616489 |
Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypoth... |
OMIM:158350 |
Pagod Syndrome |
|
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... |
ORPHA:991 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Death in infa... |
OMIM:300219 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Macroorchidism |
ORPHA:324410 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Microphallus, Postnatal growth retardation, Intrauterine growth retardation, Abnor... |
ORPHA:397590 |
Seckel Syndrome 7 |
|
Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea... |
OMIM:614851 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
3-Methylglutaconic Aciduria, Type V |
|
Failure to thrive, Postnatal growth retardation, Decreased testicular size, Intrauterine growth r... |
OMIM:610198 |
Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... |
ORPHA:478 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Intrauterine growth retardation, Adrenal gland dysgenesis, Stillbirth... |
OMIM:236680 |
Poems Syndrome |
|
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuf... |
ORPHA:2905 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas |
ORPHA:145 |
Silver-Russell Syndrome |
|
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... |
ORPHA:813 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Bruising susceptibility, Ovarian cyst |
ORPHA:327 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Dysmenorrhea, Polycystic ovaries, Hypertriglyceridemia, Hepatomegaly, Diabetes mell... |
ORPHA:2348 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Obesity, Short stature, Polycystic ovaries |
OMIM:616831 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Ovarian cyst, Weight loss, Hepatomegaly, Jaundice, Urticaria |
ORPHA:400 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Premature skin wrinkling, Intrauterine growth retardation, R... |
OMIM:269880 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Acquired Generalized Lipodystrophy |
|
Progeroid facial appearance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ov... |
ORPHA:79086 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... |
OMIM:151660 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Postnatal growth retardation, Splenomegaly, Dysmenorrhea, Polycystic ovar... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Growth delay, Failure to thrive, Splenomegaly, Dysmenorrhea, Polycystic o... |
ORPHA:264580 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
Tetraamelia Syndrome 1 |
|
Vaginal atresia, Absent external genitalia, Adrenal gland agenesis, Hypoplasia of the fallopian tube |
OMIM:273395 |
Lymphatic Malformation 12 |
|
Death in adolescence, Hydrocele testis, Neonatal death |
OMIM:620014 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... |
ORPHA:96179 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Bresek Syndrome |
|
Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Growt... |
ORPHA:85284 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Neonatal death, Hepatomegaly, Micropenis, Hydrocele testis |
OMIM:618810 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Progeroid facial appearance, Premature graying of hair, Splenomegaly... |
ORPHA:280365 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi... |
OMIM:241410 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... |
ORPHA:2969 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Failure to thrive |
ORPHA:91130 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Abdominal obesity, Le... |
OMIM:209900 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... |
ORPHA:249 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Diabetes insipidus, Vascular skin abnormality, Neoplasm of the th... |
ORPHA:744 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Cyanosis, Hypoparathyroidism, Short stature |
ORPHA:3426 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Double Outlet Left Ventricle |
|
Cardiomegaly, Cyanosis, Cryptorchidism, Failure to thrive |
ORPHA:3427 |
Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Reduced subcutaneous ad... |
OMIM:608594 |
Neuralgic Amyotrophy |
|
Short stature, Acrocyanosis |
ORPHA:2901 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Trisomy 20P |
|
Macroorchidism, Hypospadias, Cryptorchidism |
ORPHA:261318 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... |
ORPHA:2237 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... |
OMIM:618160 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... |
OMIM:608747 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... |
OMIM:269700 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Female pseudohermaphroditism, Urogenital sinus anomaly, Displacement... |
ORPHA:2973 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Gonadal calcification, Decreased fertility, Cyanosis, Weight los... |
ORPHA:60025 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Disproportionate short-limb short stature, Elevat... |
OMIM:609441 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Cyanosis |
OMIM:619879 |
46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
Tarp Syndrome |
|
Cyanosis, Intrauterine growth retardation, Cryptorchidism, Failure to thrive |
ORPHA:2886 |
Satoyoshi Syndrome |
|
Short stature, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... |
ORPHA:64 |
Sanjad-Sakati Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Congenital hypoparathyroidism, Severe intrauterine ... |
ORPHA:2323 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age |
ORPHA:621 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis, Telangiectasia of the skin, Enlarged kidney |
ORPHA:276280 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Right ventricular hypertrophy, Cyanosis, Cardiomegaly, Maternal diabetes, Hepa... |
ORPHA:860 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Growth delay, Postnatal growth retardati... |
OMIM:210900 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Esophageal Atresia |
|
Failure to thrive in infancy, Cyanosis, Maternal diabetes, Growth delay, Small for gestational ag... |
ORPHA:1199 |
Pitt-Hopkins Syndrome |
|
Growth delay, Failure to thrive, Supernumerary nipple, Postnatal growth retardation, Cryptorchidi... |
ORPHA:2896 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Bilateral cryptorchidism, Short stature, Coronal hypospadias |
OMIM:619859 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Cyanosis, Polycystic ovaries, Cardiomegaly, Hepatomegaly |
ORPHA:137675 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Delayed p... |
OMIM:615866 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Postnatal growth retardation |
ORPHA:2728 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Thyroiditis, Growth delay, Failure to thrive, Bruising susceptibility, Xa... |
ORPHA:79259 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldo... |
ORPHA:231632 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Growth delay, Splenomegaly |
ORPHA:2414 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Enlarged kidney, Ovarian cyst |
OMIM:618188 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Failure to thrive, Reduced subcutaneous adipose tissue, Excessive wrinkled sk... |
OMIM:619950 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Craniopharyngioma |
|
Growth delay, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesi... |
ORPHA:54595 |
C Syndrome |
|
Failure to thrive in infancy, Female pseudohermaphroditism, Cryptorchidism, Death in infancy, Sho... |
ORPHA:1308 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Short stat... |
OMIM:601186 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Intrauterine growth retardation, Postnatal growth retardation, Abnorma... |
ORPHA:93325 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus, Short stature |
OMIM:617914 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... |
OMIM:618419 |
Phocomelia, Schinzel Type |
|
Disproportionate short stature, Intrauterine growth retardation, Cryptorchidism, Aplasia of the u... |
ORPHA:2879 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Short stature, Unicor... |
OMIM:614527 |
Specc1L-Related Hypertelorism Syndrome |
|
Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum |
ORPHA:1519 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Growth delay, Failure to thrive, Splenomegaly, Cyanosis, Death in infancy, Hepatomegaly, Hypospadias |
OMIM:252010 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Failure to thrive |
OMIM:263000 |
Congenital Heart Block |
|
Intrauterine growth retardation, Cyanosis |
ORPHA:60041 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, L... |
ORPHA:96191 |
Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Death in... |
ORPHA:2052 |
Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
Meckel Syndrome 12 |
|
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus |
OMIM:616258 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Splenomegaly, Petechiae, Prolonged neonatal jaundice, Hypothyroidism, Short stature, He... |
OMIM:225750 |
Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Failure to thrive, Growth delay |
OMIM:614407 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Failure to thrive, Death in infancy |
OMIM:602473 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Intrauterine growth retardation, Hypoxemia, Failure to thrive |
ORPHA:2257 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Cyanosis |
ORPHA:391428 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Intrauterine growth retardation, Abnormality of circulating cortisol level, De... |
ORPHA:320 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Failure to thrive |
ORPHA:444013 |
Fucosidosis |
|
Failure to thrive, Vascular skin abnormality, Cardiomegaly, Hypothyroidism, Hepatomegaly, Acrocya... |
ORPHA:349 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Weight loss, Cyanosis |
ORPHA:1302 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Obesity, Splenomegaly, Ovarian cyst, Parathyroid agenesis... |
OMIM:188400 |
Tetrasomy 5P |
|
Cyanosis, Failure to thrive, Postnatal growth retardation |
ORPHA:3309 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Failure to thrive |
OMIM:264350 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Doors Syndrome |
|
Congenital hypothyroidism, Ambiguous genitalia, Adrenal hyperplasia |
ORPHA:79500 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... |
OMIM:137920 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis |
OMIM:257500 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Short stature, Angiokeratoma corporis diffusum |
OMIM:208400 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... |
ORPHA:99413 |
Turner Syndrome |
|
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... |
ORPHA:881 |
Mosaic Monosomy X |
|
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... |
ORPHA:99228 |
Monosomy X |
|
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... |
ORPHA:99226 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin sys... |
OMIM:177735 |
Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
Hutchinson-Gilford Progeria Syndrome |
|
Generalized abnormality of skin, Premature skin wrinkling, Delayed menarche, Cyanosis, Severe fai... |
ORPHA:740 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Failure to thrive, Death in infancy, Neonatal death |
OMIM:265120 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Splenomegaly, Vascular skin abnormality |
ORPHA:93 |
Sepsis In Premature Infants |
|
Splenomegaly, Petechiae, Decreased body weight, Cyanosis, Hepatomegaly, Jaundice, Purpura, Small ... |
ORPHA:90051 |
Leopard Syndrome 1 |
|
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... |
OMIM:151100 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... |
ORPHA:322 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis, Failure to thrive |
ORPHA:51188 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Hypoxemia, Cyanosis |
ORPHA:2302 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Cutis marmorata, Cardiomegaly, Prolonged neonatal jaundice, Hypothyroidism, S... |
ORPHA:51 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Hypoxemia, Failure to thrive |
ORPHA:91359 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Growth delay, Failure to thrive, Intrauterine growth retardation, Cryptorchid... |
OMIM:194190 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Intrauterine growth retardation, Cryptorc... |
OMIM:256520 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Intrauterine growth retardation, Growth delay |
OMIM:614083 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Failure to thrive, Cyanosis, Death in infancy, Neonatal death, Hypoxemia |
OMIM:610921 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Orchitis, Weight loss, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Orofaciodigital Syndrome I |
|
Short stature, Pancreatic cysts, Ovarian cyst |
OMIM:311200 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis |
OMIM:250800 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Intrauterine growth retardation, Right ventricular hypertrophy, Cyanos... |
ORPHA:555874 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Norrie Disease |
|
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... |
ORPHA:649 |
Myasthenia Gravis |
|
Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymus morphology... |
ORPHA:589 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Bruising susceptibility, Cystocele, Cryptorchidism, Uterine prolapse, Ecchymosis... |
OMIM:130050 |
Eosinophilic Fasciitis |
|
Weight loss, Acrocyanosis |
ORPHA:3165 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Growth delay, Purpura, Hepatomegaly, Acrocyanosis, Urticaria |
ORPHA:343 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Cyanosis |
ORPHA:488627 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Short stature, Micropenis, Hypoplasia of the uterus, Hy... |
OMIM:309801 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis |
OMIM:261680 |
Necrotizing Enterocolitis |
|
Cyanosis, Small for gestational age |
ORPHA:391673 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Hypoxemia, Cyanosis |
ORPHA:439 |
Idiopathic Pulmonary Fibrosis |
|
Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
Truncus Arteriosus |
|
Intrauterine growth retardation, Cyanosis, Cardiomegaly, Hypoplasia of the thymus, Adrenocortical... |
ORPHA:3384 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... |
OMIM:107480 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Weight loss, Cyanosis |
ORPHA:747 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Cyanosis |
ORPHA:159 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Uterine prolapse, Decreased body weight, Short stature, Acrocyanosis |
OMIM:303600 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Cyanosis, Cardiomegaly, Hepatomegaly, Right ventricular hypertrophy |
ORPHA:1329 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Death in infancy, Aplasia of the uterus, Short stature, Pancreatic cysts |
OMIM:274000 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Cutis marmorata, Purpura, Weight loss, Acrocyanosis, Urticaria |
ORPHA:183 |
Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Prematurely aged appearance, Uterine prolapse, Ecchy... |
ORPHA:287 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Postnatal growth retardation, Cutis marmorata, Intrauterine growth retardat... |
OMIM:135900 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Disproportionate short stature, Cryptorchidism, Aplasia of the uterus, Anteriorly ... |
OMIM:276820 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Hypoxemia, Failure to thrive |
OMIM:610913 |
Peters Plus Syndrome |
|
Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Congenital h... |
ORPHA:709 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Failure to thrive in infancy, Obesity, Death in early adultho... |
ORPHA:904 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left ventricular hypertrophy, Failure to thrive |
ORPHA:99106 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Failure to thrive, Hyperaldosteronism, Short stature, Hyperactive renin-angi... |
OMIM:601678 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Failure to thrive, Death in childhood |
OMIM:618426 |
Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Adrenal calcification, Cyanosis, Pancreatic calcification, Cardiome... |
ORPHA:51608 |
Loeys-Dietz Syndrome |
|
Bruising susceptibility, Uterine rupture |
ORPHA:60030 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Cyanosis, Hypoxemia |
ORPHA:2038 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Hepatosplenomegaly, Abnormality of circulating cortisol level... |
ORPHA:3385 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Cyanosis |
OMIM:620423 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Peters-Plus Syndrome |
|
Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Intrauterine... |
OMIM:261540 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
Cardiogenic Shock |
|
Hepatomegaly, Cyanosis, Hypoxemia |
ORPHA:97292 |
Okamoto Syndrome |
|
Bifid uterus, Severe postnatal growth retardation, Splenomegaly |
ORPHA:2729 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
Congenital Tracheomalacia |
|
Cardiomegaly, Cyanosis, Failure to thrive |
ORPHA:95430 |
Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Cyanosis, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:306955 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Cyanosis, Enlarged kidney |
OMIM:261740 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Bruising susceptibility, Cystocele, Cryptorchidism, Uterine prolapse, Excessive ... |
ORPHA:286 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Pallister-Killian Syndrome |
|
Small scrotum, Rhizomelia, Growth delay, Supernumerary nipple, Obesity, Mesomelic/rhizomelic limb... |
OMIM:601803 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Growth delay |
OMIM:223900 |
Familial Dysautonomia |
|
Acrocyanosis, Growth delay |
ORPHA:1764 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Growth delay, Cyanosis, Hypocapnia |
ORPHA:980 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Hypermobile Ehlers-Danlos Syndrome |
|
Menometrorrhagia, Bruising susceptibility, Cystocele, Decreased fertility, Acrocyanosis |
ORPHA:285 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... |
OMIM:187300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Failure to thrive |
ORPHA:99050 |
Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Weight loss, Facial erythema, Telangiec... |
ORPHA:221 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis, Failure to thrive |
ORPHA:416 |
Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Cyanosis |
ORPHA:2299 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... |
OMIM:610655 |
Eisenmenger Syndrome |
|
Hepatomegaly, Hypoxemia, Cyanosis |
ORPHA:97214 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Failure to thrive |
ORPHA:216694 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Goodpasture Syndrome |
|
Weight loss, Cyanosis |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Cardiomegaly, Cyanosis |
ORPHA:99125 |