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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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
Primary Ciliary Dyskinesia