Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... |
OMIM:614897 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... |
OMIM:620303 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... |
ORPHA:3411 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, ... |
OMIM:600785 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Hypertension, Complete duplication of the distal phalanges of the hand, Multiple... |
ORPHA:1879 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618117 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... |
ORPHA:453533 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... |
OMIM:614837 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced ... |
ORPHA:970 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:617690 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... |
ORPHA:3416 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Telangiectasia of the... |
ORPHA:75508 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, 2-3 f... |
ORPHA:3152 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se... |
OMIM:615300 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... |
ORPHA:314478 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ... |
OMIM:614841 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... |
ORPHA:2790 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... |
OMIM:619761 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Ameno... |
ORPHA:2795 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... |
ORPHA:3344 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Arachnodactyly, Premature ovarian insufficiency, Sparse pubic hair, Inc... |
ORPHA:243 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Fa... |
ORPHA:247768 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the... |
ORPHA:3130 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fall... |
OMIM:158330 |
Gordon Holmes Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea |
OMIM:212840 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Talipes equinovarus, Primary amenorrhea |
OMIM:233400 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrhea, Decreased serum... |
OMIM:618187 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Decreased re... |
ORPHA:1263 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Sparse ha... |
ORPHA:221008 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon... |
OMIM:620103 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea |
OMIM:600705 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... |
ORPHA:206484 |
Estrogen Resistance Syndrome |
|
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... |
ORPHA:785 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163976 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:232700 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Elevated circulat... |
OMIM:229070 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... |
OMIM:265900 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... |
OMIM:620311 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163971 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Adenohypophysitis |
|
Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... |
ORPHA:95512 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov... |
ORPHA:2232 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth ... |
ORPHA:79444 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing o... |
OMIM:241530 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Squamous cell carcinoma, Neutropenia, ... |
ORPHA:2909 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614962 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Eleva... |
ORPHA:90796 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Anterior pituitary hypoplasia... |
ORPHA:157954 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Neutropenia, Sparse ha... |
ORPHA:221016 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Caudal Duplication |
|
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys |
ORPHA:1756 |
Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Bronchiectasis, Female infertility, Goiter |
OMIM:617577 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Abnormal hair quantity, Osteomyelitis, Abnormal hair pattern, Elevat... |
ORPHA:2796 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t... |
ORPHA:249 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... |
ORPHA:90793 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla... |
ORPHA:37202 |
Hypoplasminogenemia |
|
Cervicitis, Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Abnormal pelvis bone morphology, Hemangiomatosis, Osteoly... |
ORPHA:73 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Hemangioma, Lipoma, Calvarial hyperostos... |
OMIM:176920 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to gro... |
ORPHA:95494 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Abnormality of the testis size, Large carpal bones, In... |
ORPHA:99330 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, S... |
OMIM:300869 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Pituicytoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to growth hormone stim... |
ORPHA:251623 |
Ovarian Fibroma |
|
Gonadal calcification, Peritonitis, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Limitation of joint mobility, Slender long bone, Ab... |
ORPHA:1486 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Arthritis, Infertility, Amenorrhea |
OMIM:602390 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Whim Syndrome 1 |
|
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Bronc... |
OMIM:193670 |
Luscan-Lumish Syndrome |
|
Shyness, Irregular menstruation, Polycystic ovaries, Recurrent otitis media, High anterior hairli... |
OMIM:616831 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Facial palsy, Osteopetrosis |
ORPHA:1522 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Retrog... |
OMIM:223360 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... |
ORPHA:99725 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:79085 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Pa... |
OMIM:259700 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Widow's peak, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Hyperhidrosis, Knee flexion co... |
ORPHA:3206 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone c... |
OMIM:305400 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Primary amenorrhea |
OMIM:202110 |
Beaulieu-Boycott-Innes Syndrome |
|
High anterior hairline, Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis |
OMIM:612702 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Increased bone mineral density, Broad femoral neck, Short tubular bones o... |
ORPHA:85184 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... |
OMIM:610628 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Oligomenorrhea, Polycystic ovaries |
ORPHA:435651 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Lo... |
OMIM:617952 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Facial palsy, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Pituitary hypot... |
OMIM:602152 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Finger clinodactyly, Pr... |
ORPHA:261534 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Hemochromatosis, Type 3 |
|
Arthritis, Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:604250 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Hypothyroidism, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, De... |
ORPHA:95496 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Cryptorchidism, Delayed ... |
OMIM:602471 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Skeletal muscle atrophy, Coxa vara, Con... |
OMIM:616716 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Myotonic Dystrophy 2 |
|
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Oligo... |
OMIM:602668 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:241080 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Clinodactyly of the 5th finger, Elevate... |
OMIM:608747 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... |
ORPHA:478 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... |
ORPHA:769 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Oligomenorrhea, Polycystic ovaries |
ORPHA:435660 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Neoplasm of the skeletal system, Neoplasm of head and neck, Abno... |
ORPHA:352540 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Pancreatitis, Primary amenorrhea, Polycystic ovaries, Secondary amenorrhea, Oligome... |
ORPHA:79083 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Intraventricular hemorrh... |
OMIM:616507 |
Prune Belly Syndrome |
|
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... |
ORPHA:2970 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous ... |
ORPHA:90795 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas... |
OMIM:202010 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Sparse pubic hair, ... |
ORPHA:3044 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... |
ORPHA:3464 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopet... |
OMIM:612840 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Cryptorchidis... |
ORPHA:2658 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Facial palsy, High iliac wing, Aortic valve stenosis, Osteopetros... |
ORPHA:2780 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... |
OMIM:261680 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Teebi Hypertelorism Syndrome 1 |
|
Highly arched eyebrow, Widow's peak, Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... |
OMIM:156550 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ... |
OMIM:617253 |
Oculodentodigital Dysplasia |
|
Brittle hair, Clinodactyly of the 5th finger, Sparse hair, Finger syndactyly, Short hallux, Aplas... |
ORPHA:2710 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Pyelonephritis, Chordee, Longitudinal vaginal septu... |
OMIM:140000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Congesti... |
OMIM:166210 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Peritonitis, Metrorrhagia |
ORPHA:168816 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus |
OMIM:617466 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... |
ORPHA:90794 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis |
OMIM:613327 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... |
OMIM:269700 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... |
OMIM:613848 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Frontotemporal hypertrichosis, Bicornuate uterus |
OMIM:263210 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormal f... |
ORPHA:2552 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, ... |
ORPHA:244 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612301 |
Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Hyperhidrosis, Femoral bowing, Tibial bowing, Sparse hair, Short tibia,... |
OMIM:601559 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Mesoaxial polydactyly, Radial bowing, Midline facial... |
ORPHA:672 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Fing... |
ORPHA:8 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... |
ORPHA:3035 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ... |
ORPHA:1521 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Neoplasm of the scr... |
ORPHA:370348 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Abnormality of the uter... |
ORPHA:3138 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Thrombo... |
OMIM:259720 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short palm, Accessory spleen, Diastasis recti, Elevated circulating luteinizing hormone level, Hi... |
OMIM:618419 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, High anterior hairline, Micropenis |
ORPHA:363444 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia |
OMIM:616483 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Flexion contracture, Epiphyseal stippling, Abnormal pelvic... |
OMIM:222765 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Thick eyebrow |
ORPHA:444002 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Osteopetrosis |
OMIM:618541 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Myelomeningocele, Ambiguous genitalia, female, Epispadias, Vesicova... |
OMIM:258040 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Hyper... |
ORPHA:2769 |
Lead Poisoning |
|
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Oligozoospermia, Tubuloin... |
ORPHA:330015 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Parathyroid hypopl... |
ORPHA:2237 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Myocardial infarction, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Myocardial infarction, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th... |
ORPHA:99226 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Acne, Frontal balding, Precocious puberty, Oligozoospermia, Infertility, Oli... |
ORPHA:786 |
Isolated Splenogonadal Fusion |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone o... |
ORPHA:175 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Abnormal eyelash morphology, Capitate-hama... |
OMIM:206920 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Sparse eyebr... |
OMIM:309583 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe... |
ORPHA:93315 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... |
OMIM:230600 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Abnormal cortical bone morphology, Abnormality of the hairline |
OMIM:614886 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... |
ORPHA:666 |
Somatomammotropinoma |
|
Dysmenorrhea, Synophrys, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, General... |
ORPHA:314769 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, C... |
OMIM:160980 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... |
OMIM:615866 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating ... |
ORPHA:97261 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypop... |
OMIM:137920 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... |
OMIM:143095 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Ur... |
ORPHA:556 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Micropenis, Bicornuate uterus |
OMIM:264480 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... |
ORPHA:97282 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Abnor... |
ORPHA:96263 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bilateral cryptorchidism, Short metatarsal, Hypothyroidism, Ovarian serous cystadenoma, Muscle hy... |
ORPHA:1772 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Myelomeningocele, Synophrys, Premature gra... |
ORPHA:3440 |
Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... |
OMIM:250790 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, El... |
ORPHA:97283 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating ... |
ORPHA:97278 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Broad metatarsal, Mitral regurgitation, Pulmonic stenosis, Broad phalanges of th... |
OMIM:277600 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Congestive heart failure, Elbow flexion cont... |
OMIM:608328 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Unilateral cryptorchidism, Arachnodactyly, Femur fracture, Overlapping toe,... |
OMIM:605822 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chordee, Urogeni... |
OMIM:618820 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ... |
OMIM:614527 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Spl... |
ORPHA:667 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Myelodysp... |
ORPHA:508542 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... |
OMIM:249420 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... |
OMIM:610755 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Cryptorchidism, Short palm, Short 1st metacarpal |
ORPHA:93328 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... |
ORPHA:1655 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Acromegaly |
|
Dysmenorrhea, Synophrys, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, General... |
ORPHA:963 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Hypoglycemia, Cirrhosis |
OMIM:617049 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Bicornuate uterus |
OMIM:222448 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Meningocele, Abnormal morphology of female internal genitalia, Agona... |
ORPHA:991 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, El... |
ORPHA:97280 |
Fryns Syndrome |
|
Cryptorchidism, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly, Osteopetrosis |
ORPHA:35107 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Widow's peak, Bicornuate uterus, Sh... |
ORPHA:2745 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Knee flex... |
OMIM:210710 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... |
ORPHA:93111 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Wide distal femoral metaphysis, Postaxi... |
OMIM:269150 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Coxa valga, Capitate... |
OMIM:304150 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus |
ORPHA:2879 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Osteolytic d... |
OMIM:309350 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple |
OMIM:200980 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Spina bifida occulta,... |
OMIM:300707 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis, Abnormality of the ovary, H... |
OMIM:209900 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Alopecia, Abnormality of the menstrual cycle, Abnormality of the endo... |
ORPHA:3385 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... |
ORPHA:1359 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent external genitalia, Bilater... |
OMIM:263650 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Occipital encephalocele, Aplasia of the uterus |
OMIM:619879 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Slow-growing hair, Short nail, Sagittal cr... |
OMIM:218330 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Delayed puberty, Hepatocellular ca... |
OMIM:232220 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Polydactyly, Short eyelashes, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Cryptorchidism, Limi... |
OMIM:258315 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Wilson Disease |
|
Acute hepatitis, Arthritis, Hepatitis, Abnormality of the menstrual cycle |
ORPHA:905 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Faci... |
OMIM:607323 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Currarino Syndrome |
|
Perianal abscess, Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Cryptorchidism, Hypoplasia of the radius, Tal... |
OMIM:607143 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... |
ORPHA:2968 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Alg9-Cdg |
|
Low posterior hairline, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples, Hypertri... |
ORPHA:79328 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Spina bifida, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian ... |
ORPHA:99776 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:90308 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... |
OMIM:304120 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
Fanconi Anemia |
|
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Decreased ... |
ORPHA:84 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Brachydactyly, Bowed humerus, Flexion contracture, Short long bone... |
OMIM:619479 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair pattern, Cryptorchi... |
ORPHA:2052 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Meacham Syndrome |
|
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina |
OMIM:608978 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
Rhombencephalosynapsis |
|
Abnormality of the uterus |
ORPHA:59315 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... |
OMIM:272460 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Macroglossia, Macroorchidi... |
ORPHA:93 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Low posterior hairline, Micropenis |
OMIM:617925 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Periodontitis, Uterine rupture, Uterine prolap... |
OMIM:130050 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Facial ... |
OMIM:229850 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, S... |
ORPHA:2785 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Patent urachus, Aplasia of the uterus, ... |
OMIM:618280 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaundice, Portal inflammation, Perit... |
OMIM:619991 |
Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Myelomeningocele, E... |
OMIM:219000 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Bifid uterus, Absent eyelashes, Cryptorchidism, Short umbilical cord, Small placent... |
OMIM:256520 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short nail, Cone-shaped epiphyses of the phalanges of the ha... |
ORPHA:420794 |
Fg Syndrome Type 1 |
|
Hypospadias, Cryptorchidism, Frontal upsweep of hair, Small pituitary gland, Abnormal social beha... |
ORPHA:93932 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Anencephaly, Adrenal gland dysgenesis, Abnormal vagina morphology |
OMIM:236680 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Eczema, Septate vagina, Precocious puberty, Cryptorchi... |
OMIM:270400 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Midface capillary hemangioma, Hypoplasia of the ulna... |
OMIM:218600 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Bronchiectasis |
OMIM:123700 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Portal hypertension, Rickets, Reduced bone mineral densit... |
OMIM:613658 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Cryptorchidism, Short toe, Genu valgu... |
OMIM:616145 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... |
ORPHA:177907 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Norrie Disease |
|
Cryptorchidism, Erectile dysfunction, Uterine rupture |
ORPHA:649 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Bicornuate uterus, A... |
ORPHA:2363 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Long t... |
ORPHA:3455 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Spina bifida, Seborrheic dermatitis |
OMIM:274000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Okamoto Syndrome |
|
Facial hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Hypertrichosis, Bi... |
ORPHA:2729 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ... |
ORPHA:906 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus, Sparse lower eyelashes, Absent lower eyelashes |
OMIM:154400 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb |
OMIM:314390 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr... |
ORPHA:199 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Midface capillary hemangioma, Sparse hair, Phocomelia,... |
OMIM:268300 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Thick eyebrow, Dry hair, Hypospadias, Cryptorchidism, Lumbosacral hirsutism, L... |
OMIM:135900 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia |
ORPHA:93271 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Decreased response t... |
OMIM:619503 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... |
ORPHA:201 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Large placenta, Cryptorchidism, Ambiguous g... |
OMIM:249000 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Low posterior hairline, A... |
OMIM:194190 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... |
ORPHA:286 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Umbilical hernia, Ant... |
ORPHA:709 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Bicornuate uterus, Hypospadias |
OMIM:265380 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... |
OMIM:261540 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Acne, Spina bifida, Seborrheic dermatitis, Cryptorchidism, Menin... |
ORPHA:567 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Testicul... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Fair hair, Hypospadias, Decreased response to growth hormone stimulation test, Testicul... |
ORPHA:363958 |
Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Osteoarthritis, Cystocele, Decreased fertility, Keratoconjunc... |
ORPHA:285 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Genu varum, Long toe, Abse... |
OMIM:264090 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Cryptorchidism, Humeroradial synostosis, Hypo... |
ORPHA:3404 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Elbow flexion contract... |
OMIM:117650 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior |
ORPHA:309256 |
Mend Syndrome |
|
Cryptorchidism, Abnormal social behavior |
ORPHA:401973 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior |
ORPHA:309263 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormal social behavior, Neoplasm of the gallbladder |
ORPHA:309271 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Aspiration pneumonia, ... |
ORPHA:438213 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... |
ORPHA:857 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Osteoarthritis, Knee osteoarthritis, Uterine prol... |
ORPHA:284984 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Umbilical hernia, Osteoarthritis, Cervical insufficiency |
ORPHA:287 |
Coffin-Lowry Syndrome |
|
Uterine prolapse, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Sparse eyelashes, Supernumerary nipple, ... |
OMIM:601803 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior, Long eyelashes, Short nail |
ORPHA:1675 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Thick eyebrow, Tapered finger |
OMIM:618367 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... |
ORPHA:904 |
Loeys-Dietz Syndrome 3 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Cystocele, Knee osteoarthritis, Hip o... |
OMIM:613795 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathyroid adenoma, Abnormal socia... |
ORPHA:805 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior |
ORPHA:646 |