Gene: Pgr MGI:97567

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

progesterone receptor

Synonyms:

NR3C3, 9930019P03Rik, PR, PR-B, ENSMUSG00000074510, PR-A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pgr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pgr (1 diseases)
Human diseases predicted to be associated with Pgr (772 diseases)

The table below shows human diseases associated to Pgr by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Progesterone Resistance		Female infertility	OMIM:264080

The table below shows human diseases predicted to be associated to Pgr by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Oocyte Maturation Defect 1	Female infertility	OMIM:615774
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Hypogonadotropic Hypogonadism 27 Without Anosmia	Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration...	OMIM:619755
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Pancreas, Dorsal, Agenesis Of	Abnormality of the pancreas, Diabetes mellitus	OMIM:167755
Endometriosis, Susceptibility To, 1	Endometriosis, Dysmenorrhea, Decreased fertility	OMIM:131200
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:619613
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures	OMIM:256450
Adenomyosis	Adenomyosis, Dysmenorrhea	OMIM:600458
Spermatogenic Failure 17	Infertility	OMIM:617214
Oocyte Maturation Defect 3	Infertility	OMIM:617712
Spermatogenic Failure 27	Infertility	OMIM:617965
Oocyte Maturation Defect 5	Infertility	OMIM:617996
Oocyte Maturation Defect 10	Female infertility	OMIM:619176
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Preimplantation Embryonic Lethality 2	Infertility	OMIM:617234
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level	OMIM:202150
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,...	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:606762
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:616511
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus, Diabetes mellitus	OMIM:125852
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ...	OMIM:614842
Nondisjunction	Decreased fertility	OMIM:158250
Hydatidiform Mole, Recurrent, 3	Infertility	OMIM:618431
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Premature Ovarian Failure 3	Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency	OMIM:608996
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility, Hypoplasia of the uterus	OMIM:617442
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:618117
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog...	ORPHA:293964
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Ovarian Dysgenesis 2	Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor...	OMIM:300510
Premature Ovarian Failure 6	Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm...	OMIM:612310
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea	OMIM:617690
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o...	ORPHA:79084
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Asherman Syndrome	Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr...	ORPHA:137686
Familial Hyperprolactinemia	Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism	ORPHA:397685
Premature Ovarian Failure 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs...	OMIM:612964
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas...	ORPHA:276580
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m...	ORPHA:261529
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas...	ORPHA:276575
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow...	OMIM:262400
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc...	ORPHA:324575
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Decreased circulating follicle stimulating hormone co...	OMIM:614897
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Beta-cell dysfunction, Diabetes mellitus	OMIM:612227
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa...	ORPHA:3411
Eiken Syndrome	Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir...	ORPHA:79106
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,...	OMIM:146110
Post-Traumatic Pituitary Deficiency	Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati...	ORPHA:95619
Asperger Syndrome, X-Linked, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300494
Asperger Syndrome, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608631
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency	OMIM:300511
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ...	ORPHA:1802
Hypergonadotropic Hypogonadism-Cataract Syndrome	Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Primary amenor...	ORPHA:2410
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular size, Cryptor...	OMIM:614840
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:314802
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:616950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ...	OMIM:600785
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619203
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Melorheostosis With Osteopoikilosis	Multiple lipomas, Complete duplication of the distal phalanges of the hand, Hypertension, Abnorma...	ORPHA:1879
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad...	ORPHA:453533
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Hypogonadotropic hypogonadism, Dec...	OMIM:308750
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ...	ORPHA:171706
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l...	OMIM:273250
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619665
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility	OMIM:212840
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ...	ORPHA:970
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614129
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu...	ORPHA:276556
Osteochondrosis Of The Metatarsal Bone	Abnormality of the third metatarsal bone, Joint stiffness, Sclerosis of foot bone, Thickened cort...	ORPHA:564003
Polycystic Ovary Syndrome 1	Amenorrhea, Oligomenorrhea, Hirsutism, Enlarged polycystic ovaries	OMIM:184700
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Functioning Gonadotropic Adenoma	Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadotropic cell aden...	ORPHA:91348
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
Premature Ovarian Failure 15	Oligomenorrhea	OMIM:618096
Mayer-Rokitansky-Kuster-Hauser Syndrome	Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus	OMIM:277000
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Primary amenorrhea, Osteoporosis	OMIM:233300
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic...	ORPHA:71526
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis	OMIM:607080
Ovarian Dysgenesis 3	Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating...	OMIM:614324
Pituitary Hormone Deficiency, Combined, 4	Adrenal insufficiency, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test...	OMIM:262700
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Gonadal dysgenesis with female...	ORPHA:168563
Angioosteohypotrophic Syndrome	Telangiectasia of the skin, Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abno...	ORPHA:75508
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females...	ORPHA:1916
Hyperostosis Corticalis Generalisata	Facial palsy, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis...	ORPHA:3416
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Facial palsy, C...	ORPHA:3152
Leydig Cell Hypoplasia	Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ...	ORPHA:755
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Androgen insufficiency...	OMIM:228300
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
46,Xx Testicular Disorder Of Sex Development	Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size	ORPHA:393
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce...	ORPHA:2235
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:314811
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins...	ORPHA:552
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Mullerian Aplasia And Hyperandrogenism	Amenorrhea, Hirsutism, Aplasia/Hypoplasia of the fallopian tube, Acne, Aplasia of the uterus, Apl...	OMIM:158330
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology	OMIM:609812
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:108420
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Pri...	OMIM:614841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Premature Ovarian Failure 5	Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda...	OMIM:611548
Hyperprolactinemia	Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia	OMIM:615555
Mahvash Disease	Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel...	OMIM:619290
Ovarian Fibrothecoma	Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Peritonitis, Gonadal calcification, Ova...	ORPHA:314478
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A...	ORPHA:754
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Clavicular sclerosis, Generalized osteosclerosis, Abnorm...	ORPHA:2790
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome...	OMIM:615300
Fowler Urethral Sphincter Dysfunction Syndrome	Amenorrhea, Hirsutism, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Acne, Polycystic ...	ORPHA:2795
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Vaginal Atresia	Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers...	ORPHA:65681
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency	OMIM:311360
Complete Androgen Insensitivity Syndrome	Blind vagina, Sparse axillary hair, Elevated circulating luteinizing hormone level, Primary ameno...	ORPHA:99429
46,Xx Gonadal Dysgenesis	Reduced bone mineral density, Arachnodactyly, Osteopenia, Streak ovary, Primary amenorrhea, Spars...	ORPHA:243
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc...	OMIM:262190
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Cortisone Reductase Deficiency 1	Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea, Acne	OMIM:604931
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe...	OMIM:233420
Invasive Mole	Menometrorrhagia	ORPHA:99925
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ...	OMIM:619761
Weismann-Netter Syndrome	Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnormal morpho...	ORPHA:3344
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp...	ORPHA:1227
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Autism	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:209850
Autism, Susceptibility To, X-Linked 3	Lack of peer relationships, Abnormal nonverbal communicative behavior	OMIM:300496
Autism, Susceptibility To, 8	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:607373
Autism, Susceptibility To, X-Linked 1	Lack of peer relationships, Abnormal nonverbal communicative behavior	OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608636
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Premature Ovarian Failure 9	Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:615724
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility	ORPHA:1643
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Facial hirsutism,...	ORPHA:247768
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Satoyoshi Syndrome	Amenorrhea, Alopecia universalis, Abnormal hair morphology, Hypoplasia of the uterus, Hypoplasia ...	ORPHA:3130
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Low posterior hairline	ORPHA:2578
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, In...	OMIM:604367
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia	OMIM:307500
Non-Functioning Pituitary Adenoma	Anemia of inadequate production, Impotence, Central adrenal insufficiency, Decreased fertility in...	ORPHA:91349
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
46,Xy Sex Reversal 1	Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma...	OMIM:400044
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content...	ORPHA:263455
Perrault Syndrome 1	Increased circulating gonadotropin level, Primary amenorrhea, Talipes equinovarus, Osteoporosis	OMIM:233400
Transient Neonatal Diabetes Mellitus	Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ...	ORPHA:99886
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Gnathodiaphyseal Dysplasia	Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co...	ORPHA:53697
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad...	ORPHA:66628
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Hypogonadism, Central hypothyroidism	OMIM:616113
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus	OMIM:616033
Androgen Insensitivity Syndrome	Labial hypoplasia, Blind vagina, Sparse axillary hair, Absent facial hair, Elevated circulating l...	OMIM:300068
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat...	ORPHA:90797
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad...	ORPHA:179494
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha...	OMIM:110100
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism	OMIM:616030
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:618187
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Acromesomelic Dysplasia 3	Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm...	OMIM:609441
Rothmund-Thomson Syndrome Type 1	Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Aplastic anemia, Alop...	ORPHA:221008
Hymen, Imperforate	Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos	OMIM:237100
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly	OMIM:232700
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Boomerang Dysplasia	Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas...	ORPHA:1263
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Sparse axillary hair, Bilateral breast hypoplasia, Hypogonadotropic hypogonad...	ORPHA:52901
Satoyoshi Syndrome	Amenorrhea, Alopecia universalis, Hypoplasia of the uterus, Alopecia	OMIM:600705
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Hyperinsulinemia, Osteopenia, Absence of pubertal development, P...	ORPHA:785
Pituitary Hormone Deficiency, Combined, 2	Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro...	OMIM:262600
Hypersecretion Of Adrenal Androgens, Familial	Amenorrhea, Hirsutism, Premature pubarche	OMIM:145295
Perlman Syndrome	Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Decreased serum testosterone concentration, Cryptorchidism, Type ...	ORPHA:163976
Retinitis Pigmentosa	Type II diabetes mellitus, Hyperinsulinemia, Abnormal testis morphology, Hypogonadism	ORPHA:791
Ovarian Dysgenesis 6	Hypoplasia of the uterus	OMIM:618078
Gonadoblastoma	Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern...	ORPHA:206484
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Decreased testicular...	ORPHA:3085
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot...	ORPHA:432
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow...	ORPHA:2204
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,...	OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyse...	OMIM:264700
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
X-Linked Intellectual Disability, Cilliers Type	Clinodactyly of the 5th finger, Decreased serum testosterone concentration, Cryptorchidism, Coron...	ORPHA:163971
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased testicular size	OMIM:614858
Ovarian Dysgenesis 10	Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am...	OMIM:619834
Metatropic Dysplasia	Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the...	ORPHA:2635
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de...	OMIM:611497
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism	OMIM:614880
Premature Ovarian Failure 8	Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:615723
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism	ORPHA:242
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr...	OMIM:612885
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Hyperlipoproteinemia, Type Iv	Glucose intolerance, Hypopituitarism	OMIM:144600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon...	OMIM:229070
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Alopecia, Pr...	ORPHA:2232
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Gangliocytoma	Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Adrenocorticotropic ...	ORPHA:251937
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyse...	OMIM:277440
46,Xy Sex Reversal 3	Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d...	OMIM:612965
Premature Ovarian Failure 17	Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad...	OMIM:619146
Panhypophysitis	Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p...	ORPHA:95513
Adenohypophysitis	Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s...	ORPHA:95512
Neonatal Hemochromatosis	Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Donohue Syndrome	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Ovarian cyst, Cholestasis, Panc...	OMIM:246200
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone...	ORPHA:166277
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis	OMIM:617872
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Hepatomegaly	ORPHA:67046
Leptin Deficiency Or Dysfunction	Micropenis, Primary amenorrhea, Recurrent pneumonia, Decreased testicular size, Hypogonadism	OMIM:614962
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Placental Site Trophoblastic Tumor	Amenorrhea, Metrorrhagia	ORPHA:99928
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased fertility in males, Hypergonadotropic hypogonadism, Primary amenorrhea, Polycystic ovar...	ORPHA:90796
Sheehan Syndrome	Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth...	ORPHA:91355
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy	OMIM:264270
Non-Acquired Panhypopituitarism	Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re...	ORPHA:90695
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Bowing of the long bones, Thin bony cortex	OMIM:174810
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys...	OMIM:607778
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Increased bone mineral density, Reduced circulating prolactin concentrati...	ORPHA:79444
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Primary amenorrhea, Bicornuate uterus	OMIM:191830
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,...	OMIM:194072
Rothmund-Thomson Syndrome	Telangiectasia of the skin, Sparse hair, Sparse eyebrow, Osteopenia, Aplastic anemia, Hypoplasia ...	ORPHA:2909
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Decreased...	OMIM:619795
Spermatogenic Failure, X-Linked, 4	Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein...	OMIM:301077
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty	ORPHA:2229
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir...	OMIM:300554
Premature Ovarian Failure 16	Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased...	OMIM:618723
Aromatase Deficiency	Generalized hirsutism, Ambiguous genitalia, female, Female infertility, Hypergonadotropic hypogon...	ORPHA:91
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin...	ORPHA:2298
Interstitial Cystitis	Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A...	ORPHA:37202
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis	Hematocolpos, Uterus didelphys, Partial vaginal septum	OMIM:192050
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Impotence, Central adrenal insufficiency, Decreased fertility in mal...	ORPHA:91347
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir...	OMIM:241530
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In...	ORPHA:399805
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Deviation of finger, Abnormality of tibia morphology, Arthritis,...	ORPHA:1525
Ane Syndrome	Multiple joint contractures, Ulnar deviation of the hand, Decreased serum testosterone concentrat...	ORPHA:157954
Prolactinoma	Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Osteopenia, ...	ORPHA:2965
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus	OMIM:615524
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Short humerus, Epiphyseal stippling, Short femur	OMIM:600121
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis	ORPHA:363400
Caffey Disease	Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili...	OMIM:114000
Gorham-Stout Disease	Torticollis, Abnormality of femur morphology, Abnormal bone ossification, Abnormality of finger, ...	ORPHA:73
Pachydermoperiostosis	Elevated circulating growth hormone concentration, Osteomyelitis, Limitation of joint mobility, A...	ORPHA:2796
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re...	ORPHA:226307
Proteus Syndrome	Lymphangioma, Lipoma, Splenomegaly, Calvarial hyperostosis, Hemangioma, Multiple lipomas, Thin bo...	OMIM:176920
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Acth Deficiency, Isolated	Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena...	OMIM:201400
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis	OMIM:607634
Grant Syndrome	Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones, Abnormal pelv...	ORPHA:2097
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar...	ORPHA:79443
Rothmund-Thomson Syndrome Type 2	Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Aplastic anemia, Alop...	ORPHA:221016
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Hypoplasminogenemia	Abnormal fallopian tube morphology, Periodontitis, Abnormality of the ovary, Cervicitis	ORPHA:722
Hyperostosis Frontalis Interna	Increased circulating prolactin concentration, Hypertrichosis, Irregular menstruation	OMIM:144800
Frasier Syndrome	Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis	OMIM:136680
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia	ORPHA:79237
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ovarian cyst, Primary amenorrhea, Bilateral cryptorchidism, Decreased fertility, Pr...	ORPHA:90793
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Facial...	OMIM:166600
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Dia...	ORPHA:181393
Endocardial Fibroelastosis	Hypoglycemia, Cryptorchidism, Anterior hypopituitarism	ORPHA:2022
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Anterior pituitary agenesis, Abnormal prolactin level, Hypogonadotropic hypogonadism,...	ORPHA:95494
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Hypocalcemic Vitamin D-Dependent Rickets	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Subperios...	ORPHA:289157
49,Xyyyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, Azoospermia, Generali...	ORPHA:99330
Pituitary Apoplexy	Adrenocorticotropic hormone deficiency, Elevated circulating growth hormone concentration, Impote...	ORPHA:95613
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Hypoplasia of the ovary, Primary amenorrhea, Micropenis	OMIM:618841
Fibrous Dysplasia Of Bone	Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno...	ORPHA:249
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Mpi-Cdg	Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Portal hypertension	ORPHA:79319
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased serum testosterone concentration, Cryptorchidism, Small hand, Sparse body hair, Short f...	OMIM:300869
Fibular Hemimelia	Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu...	ORPHA:93323
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism	OMIM:612702
Meningioma	Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact...	ORPHA:2495
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Caffey Disease	Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ...	ORPHA:1310
X-Linked Acrogigantism	Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro...	ORPHA:300373
Leydig Cell Hypoplasia, Type I	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level	OMIM:238320
Ck Syndrome	Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Ovarian Dysgenesis 4	Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr...	OMIM:616185
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ...	OMIM:146255
Pituitary Adenoma 1, Multiple Types	Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con...	OMIM:102200
Ovarian Fibroma	Ovarian fibroma, Gonadal calcification, Peritonitis, Abnormality of the ovary	ORPHA:314473
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo...	OMIM:400045
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona...	OMIM:240950
Caudal Duplication	Myelomeningocele, Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Spina bifida	ORPHA:1756
Pituicytoma	Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased response to growth hormone s...	ORPHA:251623
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice	OMIM:617156
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular size, Cryptor...	OMIM:610628
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Dia...	ORPHA:528
Spondylometaphyseal Dysplasia, Pagnamenta Type	Femoral bowing, Thin bony cortex, Rhizomelia, Broad thumb, Short 4th metacarpal, Short 5th metaca...	OMIM:619638
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Abnormal hip bone morphology, Slender long bone, Abnormal cortical bone morp...	ORPHA:1486
Dent Disease 1	Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,...	OMIM:300009
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614839
Premature Ovarian Failure 11	Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Hemochromatosis, Type 4	Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa...	OMIM:606069
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Acute pancreatitis, Insulin-resist...	ORPHA:79086
Florid Cemento-Osseous Dysplasia	Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu...	ORPHA:83451
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arthritis, Azoospermia	OMIM:602390
Premature Ovarian Failure 14	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:618014
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elbow ankylosis, Decreased circulating androgen concentration, Craniosynostosis, Decreased circul...	ORPHA:95699
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge...	ORPHA:399808
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi...	OMIM:166740
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Female infertility, Thick eyebrow, Streak ovary, Hypergonadotropic hypo...	ORPHA:572333
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm...	OMIM:619949
Propionic Acidemia	Hypoglycemia, Hepatomegaly	ORPHA:35
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod...	OMIM:601376
Osteopetrosis, Autosomal Recessive 2	Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis...	OMIM:259710
Mccune-Albright Syndrome	Pituitary adenoma, Elevated circulating growth hormone concentration, Precocious puberty, Hyperth...	OMIM:174800
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn...	ORPHA:240
Craniometaphyseal Dysplasia	Osteopetrosis, Abnormal metaphysis morphology, Facial palsy, Craniofacial hyperostosis	ORPHA:1522
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Metaphyseal Acroscyphodysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ...	OMIM:250215
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,...	ORPHA:289176
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot...	OMIM:278850
Acromesomelic Dysplasia 2A	Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H...	OMIM:200700
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop...	OMIM:300888
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Weakness of facial musculature, Orthostatic hypotens...	OMIM:223360
Mccune-Albright Syndrome	Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Benign gastrointest...	ORPHA:562
Pituitary Gigantism	Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact...	ORPHA:99725
Leri-Weill Dyschondrosteosis	Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Skeletal m...	OMIM:127300
Spermatogenic Failure 28	Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul...	OMIM:618086
Frasier Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo...	ORPHA:347
Whim Syndrome 1	Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Bronc...	OMIM:193670
Osteopetrosis, Autosomal Recessive 1	Coxa vara, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Spleno...	OMIM:259700
Luscan-Lumish Syndrome	Hirsutism, Irregular menstruation, Shyness, Recurrent otitis media, Polycystic ovaries, High ante...	OMIM:616831
Hemochromatosis, Neonatal	Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat...	OMIM:231100
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Irregular menstruation...	ORPHA:1809
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, Bowing of the long bones, Abn...	ORPHA:3206
Hereditary Breast And Ovarian Cancer Syndrome	Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer	ORPHA:145
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter, Secondary amenorrhea, Premature ovarian insufficiency	OMIM:617175
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Female infertility, Premature ovarian insufficiency	OMIM:619518
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,...	ORPHA:199310
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly	ORPHA:664
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Prolo...	ORPHA:199296
Vulvovaginitis, Allergic Seminal	Vaginitis	OMIM:193450
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea	OMIM:202110
Aarskog-Scott Syndrome	Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Hyperextensibilit...	OMIM:305400
Beaulieu-Boycott-Innes Syndrome	High anterior hairline, Endometriosis, Premature ovarian insufficiency	OMIM:613680
Melnick-Needles Syndrome	Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl...	ORPHA:2484
Donnai-Barrow Syndrome	Abnormality of the uterus, Bicornuate uterus, Umbilical hernia, Widow's peak	ORPHA:2143
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Precocious puberty, Abnormal hair quantity, Alopecia, Abnormal penis morphology, Irregular menstr...	ORPHA:457059
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Osteopenia, Broad femoral neck, Thin bony cortex, Short tubular b...	ORPHA:85184
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Cryptorchidism, Precocious puberty, Congenital hypothyroidism	OMIM:614736
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus	ORPHA:676
46,Xy Sex Reversal 4	Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen...	OMIM:154230
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Uterus didelphys, Hypoplasia of penis	ORPHA:2491
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Oligomenorrhea	ORPHA:79085
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ...	OMIM:613027
Testicular Agenesis	Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn...	ORPHA:325124
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k...	OMIM:608189
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ...	OMIM:151660
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Multiple Epiphyseal Dysplasia With Robin Phenotype	Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c...	OMIM:601560
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer...	OMIM:171480
Lig4 Syndrome	Amenorrhea, Cryptorchidism, Psoriasiform dermatitis, Micropenis	OMIM:606593
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Sparse hair, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotrop...	OMIM:241080
49,Xxxyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, Bilateral talipes equ...	ORPHA:261534
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Thin bony cortex, Thin metacarpal cortices, Osteolysis involving tarsal bones, Metaca...	OMIM:259600
Hypophosphatemic Rickets, X-Linked Dominant	Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida...	OMIM:307800
Central Precocious Puberty	Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Abnormality of seconda...	ORPHA:759
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow...	ORPHA:91354
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s...	ORPHA:71212
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycem...	ORPHA:369
Limb-Mammary Syndrome	Absent nipple, Blepharitis, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Primary amenor...	ORPHA:69085
Hemochromatosis, Type 3	Amenorrhea, Hypogonadotropic hypogonadism, Impotence, Arthritis	OMIM:604250
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Osteopetrosis, Facial palsy, Anemia, Thrombocytopenia	OMIM:615085
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre...	OMIM:167800
Osteogenesis Imperfecta, Type Xviii	Recurrent fractures, Femoral bowing, Thin bony cortex, Long eyelashes, Joint laxity, Bowing of th...	OMIM:617952
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreased thyroid-stimul...	OMIM:613038
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy...	OMIM:203800
Rhyns Syndrome	Radial bowing, Decreased response to growth hormone stimulation test, Osteopenia, Brachydactyly, ...	OMIM:602152
Pituitary Stalk Interruption Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Hypoglycemia,...	ORPHA:95496
Precocious Puberty, Central, 1	Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti...	OMIM:176400
Tropical Pancreatitis	Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-...	ORPHA:103918
Rhizomelic Chondrodysplasia Punctata, Type 2	Flexion contracture, Osteopenia, Short humerus, Rhizomelia, Stippled calcification proximal humer...	OMIM:222765
Cidec-Related Familial Partial Lipodystrophy	Polycystic ovaries, Oligomenorrhea, Pancreatitis	ORPHA:435651
Blue Diaper Syndrome	Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased...	ORPHA:94086
Lumbar Syndrome	Myelomeningocele, Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryp...	ORPHA:83628
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic fibrosis, Hepatomegaly	OMIM:602579
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Swan neck-like def...	OMIM:616716
Prune Belly Syndrome	Urogenital sinus anomaly, Cryptorchidism, Abnormality of the uterus, Decreased testicular size, C...	ORPHA:2970
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Hepatic steatosis, Pancreatitis, Hypoglycemia	OMIM:619386
Weismann-Netter Syndrome	Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i...	OMIM:112350
Myotonic Dystrophy 2	Type II diabetes mellitus, Premature ventricular contraction, Frontal balding, Type 2 muscle fibe...	OMIM:602668
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ...	ORPHA:478
Mandibuloacral Dysplasia	Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:2457
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o...	ORPHA:289548
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Glucocorticoid Resistance, Generalized	Infertility, Hirsutism, Irregular menstruation	OMIM:615962
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Primary amenorrhea, Ambiguous genitalia, female, Increased size of the clitoris, Fused labia minora	ORPHA:2975
Osteopetrosis, Autosomal Recessive 4	Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Facial palsy, Retic...	OMIM:611490
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Dislocated radial head, Talipes equinovarus, Flexion contracture, Short humerus, Delayed ossifica...	OMIM:602471
Glycogen Storage Disease Ixa1	Hypoglycemia, Hepatomegaly, Splenomegaly	OMIM:306000
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis...	ORPHA:769
Rhizomelic Dysplasia, Ain-Naz Type	Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor...	OMIM:619598
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608612
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened...	ORPHA:93356
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Omodysplasia 2	Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e...	OMIM:164745
Kennerknecht syndrome	Long eyelashes, Agonadism, Hypoplasia of the uterus	OMIM:600908
Prolactin Deficiency With Obesity And Enlarged Testes	Reduced circulating prolactin concentration, Macroorchidism	OMIM:264120
Oncogenic Osteomalacia	Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Giant cell tumor ...	ORPHA:352540
Femur-Fibula-Ulna Complex	Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/...	ORPHA:2019
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:266150
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluconeogenesis, Recurre...	OMIM:212140
Pparg-Related Familial Partial Lipodystrophy	Generalized hirsutism, Pancreatitis, Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Secondary ...	ORPHA:79083
Resistance To Thyrotropin-Releasing Hormone Syndrome	Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci...	ORPHA:99832
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Glucag...	OMIM:131100
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre...	ORPHA:3464
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hirsutism, Ambiguous genitalia, female, Precocious puberty, Alopecia, Premature thelarche, Irregu...	ORPHA:90795
Lipe-Related Familial Partial Lipodystrophy	Polycystic ovaries, Oligomenorrhea, Abnormal labia majora morphology	ORPHA:435660
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Acute pancreatit...	OMIM:608594
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Arrhythmia, Hypoplasia of t...	ORPHA:2878
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of finger, Limitation of joint mobility, Increased bone mineral density, Elbow ankylo...	ORPHA:2658
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Splenomegaly, Osteopetrosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anem...	OMIM:612840
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology...	ORPHA:1427
Osteopathia Striata-Cranial Sclerosis Syndrome	Large iliac wing, Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial pa...	ORPHA:2780
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Hand-Foot-Genital Syndrome	Chordee, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, Pyelonephritis, Longitudinal v...	OMIM:140000
Multiple Endocrine Neoplasia Type 1	Pituitary growth hormone cell adenoma, Increased serum serotonin, Impotence, Thymoma, Melena, Int...	ORPHA:652
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Spina bifida occulta	OMIM:617466
Kniest Dysplasia	Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture, Tracheomalacia, Flare...	OMIM:156550
Spondyloepimetaphyseal Dysplasia, Missouri Type	Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration	OMIM:215470
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In...	OMIM:261680
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased serum testosterone concentration, Pelvic girdle muscle atrophy, Elevated circulating lu...	ORPHA:3044
Pituitary Carcinoma	Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm...	ORPHA:300385
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Hirsutism, ...	ORPHA:90794
Oculodentodigital Dysplasia	Sparse hair, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Cranial hyperosto...	ORPHA:2710
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Hyperinsulinemia, Insulin resistance	ORPHA:230
Microsporidiosis	Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis...	ORPHA:2552
Seckel Syndrome 10	Metaphyseal widening, Cone-shaped epiphysis, Elevated circulating luteinizing hormone level, Elev...	OMIM:617253
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Tibial bowing, Pulmonary insufficiency, Limb undergrowth, Absent ossificatio...	OMIM:166210
Peritoneal Cystic Mesothelioma	Peritonitis, Menorrhagia, Dyspareunia, Metrorrhagia	ORPHA:168816
Primary Lipodystrophy	Polycystic ovaries, Pancreatitis, Menometrorrhagia	ORPHA:90970
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Decreased ser...	OMIM:269700
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Femur fracture	OMIM:612301
Polyembryoma	Irregular menstruation, Isosexual precocious puberty, Macroorchidism	ORPHA:180229
Dent Disease	Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Bowing of the ...	ORPHA:1652
Duplication Of Urethra	Chordee, Distal urethral duplication, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, C...	ORPHA:237
Al-Gazali Syndrome	Recurrent fractures, Bilateral talipes equinovarus, Proximal radio-ulnar synostosis, Osteopenia, ...	OMIM:609465
Pituitary Dermoid And Epidermoid Cysts	Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Oligomenorrhea, Anterior ...	ORPHA:91351
Rhizomelic Dysplasia, Patterson-Lowry Type	Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh...	OMIM:601438
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Azoospermia	OMIM:235200
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatomegaly, Splenomegaly, Insulin resistance, Hepatic steatosis	OMIM:613327
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ...	OMIM:608940
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Oligospermia, Finger clinodactyly, Male infer...	ORPHA:8
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia	OMIM:240200
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