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
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
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
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Nondisjunction
Decreased fertility OMIM:158250
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I 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
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Hydatidiform Mole
Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Ovarian Dysgenesis 7
Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 2
Secondary amenorrhea, Hirsutism, Abnormality of the uterus, Primary amenorrhea, Premature ovarian... OMIM:300510
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:324575
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Amenorrhea, Hypogona... ORPHA:95619
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Incr... ORPHA:2410
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu varum, Generalized bone demineralization, Th... OMIM:600785
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Hypertension, Abnormal cortical bone mo... ORPHA:1879
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency OMIM:300604
Familial Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 18
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... OMIM:619203
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Dystrophic fingernails, Foot acroosteolysis, Dystrophic toenail, Tapered... ORPHA:970
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Arthritis, Abnormality of metat... ORPHA:564003
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Elevate... OMIM:273250
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Ovarian Dysgenesis 9
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Primary amenorr... OMIM:619665
Ovarian Dysgenesis 1
Osteoporosis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:614129
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Thin bony cortex, Telangiectasia of the skin, Hypoplasia of the radius, A... ORPHA:75508
Ovarian Dysgenesis 3
Primary amenorrhea OMIM:614324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased circulating luteinizing hormone level, Hypogonadotropic hypogonadism, Androgen insuffic... OMIM:228300
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Hyoplasia of the Leydig cells, Abnormal... ORPHA:755
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, Absence of seco... ORPHA:2235
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morpholog... ORPHA:3416
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Sclerosteosis
Diaphyseal thickening, Facial palsy, Abnormal cortical bone morphology, Finger syndactyly, Curved... ORPHA:3152
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308700
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Mullerian Aplasia And Hyperandrogenism
Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Amenorrhea, Acne, Apl... OMIM:158330
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Aplasia/Hypo... ORPHA:1263
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morpholog... ORPHA:2790
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Primary amenorrhea, Absent pu... OMIM:614841
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Hirsutism, Peritonitis, Metrorrhagia, O... ORPHA:314478
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Arachnodactyly, Sparse ... ORPHA:243
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia OMIM:306000
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Hirsutism, Amenorrhea, Polycystic ovaries,... ORPHA:2795
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Perrault Syndrome 1
Osteoporosis, Primary amenorrhea, Talipes equinovarus, Increased circulating gonadotropin level OMIM:233400
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hirsutism, Frontal balding, Synophrys, Acne... ORPHA:247768
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Amenorrhea, Hypoplasia of the ovary, Abnormal... ORPHA:3130
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Hammertoe, Arthrogryposis multiplex congenita, Camptodactyly of finger, An... OMIM:208080
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
Partial Androgen Insensitivity Syndrome
Hypospadias, Abnormality of secondary sexual hair, Male sexual dysfunction, Aplasia of the uterus... ORPHA:90797
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morphology, Splenom... ORPHA:2204
Estrogen Resistance Syndrome
Absence of pubertal development, Osteoporosis, Delayed epiphyseal ossification, Absence of second... ORPHA:785
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Amenorrhea, Sparse pubic hair, Increased circulating gonadotropin level, F... OMIM:110100
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrhea, Elevated circul... OMIM:618187
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:232700
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... OMIM:604367
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
X-Linked Intellectual Disability, Cilliers Type
Small hand, Absence of secondary sex characteristics, Increased circulating gonadotropin level, C... ORPHA:163971
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... ORPHA:3085
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decrea... ORPHA:432
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Genu varum, Neutropenia, Leukemia, Basal cell carcinoma, Osteosarcoma, Prem... ORPHA:221008
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... ORPHA:2635
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Fibular bowing, ... OMIM:264700
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Fibular bowing, ... OMIM:277440
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Triphalangeal thumb, Sparse pubic hair, Contracture of the proximal interphalangeal joint of the ... ORPHA:2232
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Gangliocytoma
Abnormal prolactin level, Neoplasm of the central nervous system, Amenorrhea, Spinal cord tumor, ... ORPHA:251937
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Panhypophysitis
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:95513
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Pseudohypoparathyroidism Type 1C
Choroid plexus calcification, Short 5th metacarpal, Short metatarsal, Increased bone mineral dens... ORPHA:79444
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Sparse pubic hair, Ab... OMIM:300068
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hyperostosis Frontalis Interna
Hypertrichosis, Hyperostosis frontalis interna, Diabetes mellitus, Irregular menstruation, Increa... OMIM:144800
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... ORPHA:166277
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Sheehan Syndrome
Normochromic anemia, Decreased female libido, Sparse pubic hair, Adrenocorticotropin deficient ad... ORPHA:91355
Seckel Syndrome 7
Primary amenorrhea, Hypoplasia of the uterus OMIM:614851
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... ORPHA:226307
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Amenorrhea, Hypogona... ORPHA:90695
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis OMIM:617872
Pregnancy Loss, Recurrent, Susceptibility To, 3
Recurrent spontaneous abortion OMIM:614391
Pregnancy Loss, Recurrent, Susceptibility To, 2
Recurrent spontaneous abortion OMIM:614390
Pregnancy Loss, Recurrent, Susceptibility To, 1
Recurrent spontaneous abortion OMIM:614389
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Riboflavin Deficiency
Hypoglycemia OMIM:615026
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Ambiguou... ORPHA:90796
Rothmund-Thomson Syndrome
Neoplasm of the skin, Sparse eyelashes, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, ... ORPHA:2909
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300554
Tsh-Secreting Pituitary Adenoma
Goiter, Ventricular arrhythmia, Abnormality of the menstrual cycle, Decreased female libido, Abno... ORPHA:91347
Pseudohypoparathyroidism Type 1A
Choroid plexus calcification, Short 5th metacarpal, Short metatarsal, Reduced bone mineral densit... ORPHA:79443
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency, Synophrys ORPHA:126
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Anterior pituitary hypoplasia, Abnormality of secondary sexual hair, In... ORPHA:95494
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus OMIM:191830
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Torticollis, Oste... ORPHA:73
Cranio-Osteoarthropathy
Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Clubbing of to... ORPHA:1525
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Fasting hypoglycemia, Typ... ORPHA:2298
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:241530
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Premature ovarian insufficiency, Hypergonadotropi... ORPHA:79237
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... ORPHA:91
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility, Pachygyria, Abnormal digit morphology, Po... OMIM:300831
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperinsulinemia ORPHA:363400
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypothalamic hypothyroidism, Hypo... ORPHA:2495
Pachydermoperiostosis
Neoplasm of the skin, Neoplasm of the lung, Genu varum, Abnormality of epiphysis morphology, Oste... ORPHA:2796
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Hemangioma, Lymphangioma, Splenomegaly, Lipoma, Calvar... OMIM:176920
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Facia... OMIM:166600
Pituitary Apoplexy
Hypertension, Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hy... ORPHA:95613
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... ORPHA:2097
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Genu varum, Neutropenia, Leukemia, Basal cell carcinoma, Pathologic fractur... ORPHA:221016
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Tibial bowing, Subp... ORPHA:289157
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia, Anterior hypopituitarism ORPHA:2022
49,Xyyyy Syndrome
Radioulnar synostosis, Azoospermia, Large hands, Finger clinodactyly, Generalized joint laxity, A... ORPHA:99330
Chromosome Xq27.3-Q28 Duplication Syndrome
Small hand, Increased circulating gonadotropin level, Hypogonadism, Short foot, Cryptorchidism, D... OMIM:300869
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated circulating follicle stimulating horm... ORPHA:90793
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thyroid carcinoma, Rickets, Fibrous dysplasia of the bones, Increased ci... ORPHA:249
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Pituitary Adenoma 1, Multiple Types
Hypertension, Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary gro... OMIM:102200
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic fibrosis OMIM:602579
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea OMIM:616946
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Alopecia, Long eyelashes, Cryptorchidism, Distal amyotrophy, Decre... OMIM:275400
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... ORPHA:181393
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Portal hypertension ORPHA:79319
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Craniosynostosis, Cerebral calcification OMIM:225755
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Rhyns Syndrome
Radial bowing, Pituitary hypothyroidism, Osteopenia, Anterior hypopituitarism, Decreased response... OMIM:602152
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Polycystic ovaries, Cirrhosis, H... ORPHA:528
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal cortical bone morphology, Slender long bone, Limitation of join... ORPHA:1486
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300009
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hirsutism, Elevated circul... ORPHA:95699
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Jaundice OMIM:617156
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Caudal Duplication
Abnormal penis morphology, Myelomeningocele, Uterus didelphys, Spina bifida, Cryptorchidism ORPHA:1756
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 4th metaca... OMIM:619638
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis ORPHA:314473
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Abnormal cortical bone morphology, Pachygyria, Agenesis of corpu... ORPHA:2512
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Mccune-Albright Syndrome
Increased circulating cortisol level, Polyostotic fibrous dysplasia, Pathologic fracture, Pituita... OMIM:174800
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, Precocious puberty OMIM:300801
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrho... ORPHA:79086
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Osteopetrosis, Autosomal Recessive 2
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Genu valgum, Hepato... OMIM:259710
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Highly arched eyebrow, Oligomenorrhea, Streak ovary... ORPHA:572333
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... OMIM:250215
Pituitary Gigantism
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Increased serum insulin-like growth facto... ORPHA:99725
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Urogenit... ORPHA:251510
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis, Facial palsy, Abnormality of the metaphysis ORPHA:1522
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Tibial bowing, Abnormal sacroiliac joint morphology, Craniosynostosis, Distal femoral... ORPHA:289176
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:609441
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Oligomenorrhea, Pituitary hypothyroidism, Impotence, Hypo... ORPHA:91354
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Facial palsy, Calvarial osteosclerosis, Osteomyelitis, P... OMIM:259700
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Prolonged neonat... OMIM:231100
Leri-Weill Dyschondrosteosis
Tibial bowing, Coxa valga, Multiple exostoses, Radial bowing, Abnormal metatarsal morphology, Ske... OMIM:127300
Interstitial Cystitis
Abnormal vagina morphology, Urinary bladder inflammation, Abnormality of the menstrual cycle, Abn... ORPHA:37202
Vulvovaginitis, Allergic Seminal
Vaginitis OMIM:193450
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Elevated circulating follicle stimulating hormone level, Bifid distal phal... OMIM:618419
Congenital Isolated Acth Deficiency
Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insuf... ORPHA:199296
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Stüve-Wiedemann Syndrome
Talipes equinovarus, Thickened cortex of long bones, Camptodactyly of finger, Elbow flexion contr... ORPHA:3206
Myotonic Dystrophy 2
Oligospermia, Type 2 muscle fiber atrophy, Frontal balding, Elevated circulating follicle stimula... OMIM:602668
46,Xy Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormality of the menst... OMIM:400044
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
49,Xxxyy Syndrome
Finger clinodactyly, Increased circulating gonadotropin level, Male hypogonadism, Abnormal cerebr... ORPHA:261534
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Hyperextensibility o... OMIM:305400
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Osteopenia, Stippled calcification proximal humeral epiphyses, Flexion contracture, S... OMIM:222765
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Increa... ORPHA:325124
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Cryptorchidism, Congenital hypothyroidism, Precocious puberty OMIM:614736
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Hand-Foot-Genital Syndrome
Hypospadias, Spontaneous abortion, Abnormality of the uterus, Bicornuate uterus, Abnormality of t... ORPHA:2438
Melnick-Needles Syndrome
Short clavicles, Bowing of the long bones, Abnormal cortical bone morphology, Abnormality of the ... ORPHA:2484
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Osteopenia, Curly hair... ORPHA:85184
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... OMIM:601560
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis, Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus, Widow's peak, Umbilical hernia ORPHA:2143
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphys... OMIM:616716
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Metaphyseal dysplasia, Hodgkin lymphoma, Clinodactyly, Osteopenia, Congenital adrenal hypoplasia,... OMIM:618336
Woodhouse-Sakati Syndrome
Fine hair, Hypogonadotropic hypogonadism, Alopecia, Hypoplasia of the fallopian tube, Elevated ci... OMIM:241080
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Tibial bowing, Fibular bowing, Bowing of the legs... OMIM:307800
Central Precocious Puberty
Abnormality of secondary sexual hair, Hypothalamic hamartoma, Increased circulating gonadotropin ... ORPHA:759
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia,... ORPHA:71212
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Bowing of the long bones, Long eyelashes, Generalized osteoporosis, Joint hyper... OMIM:617952
Juberg-Hayward Syndrome
Highly arched eyebrow, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormali... OMIM:216100
Frasier Syndrome
Hypertension, Streak ovary, Gonadoblastoma, Decreased serum estradiol, Increased circulating gona... ORPHA:347
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Reduced... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Reduced... ORPHA:289548
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Facial palsy, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Cerebral calcification ORPHA:1261
Limb-Mammary Syndrome
Psoriasiform dermatitis, Aplasia of the uterus, Hypoplastic nipples, Alopecia, Sparse eyebrow, Ch... ORPHA:69085
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Myelomeningocele, Micropenis,... ORPHA:83628
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Microcephaly OMIM:618160
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Tapered finger, Metaphyseal irregularity, Congenital hip dislocati... OMIM:616007
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Blue Diaper Syndrome
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Increased... ORPHA:94086
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hepatic ste... OMIM:151660
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Endometriosis OMIM:613680
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Azoospermia, Broad finger, Short phalanx of finger, ... OMIM:300845
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis OMIM:619386
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Prolo... ORPHA:94089
Prune Belly Syndrome
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... ORPHA:2970
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Noonan Syndrome 12
Supravalvular aortic stenosis, Proximal placement of thumb, Lymphopenia, Thrombocytopenia, Decrea... OMIM:618624
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Talipes equinovarus, Hypoplastic scapulae, Rhizomelia, Scapulohumeral synostosis, Dislocated radi... OMIM:602471
Prader-Willi Syndrome
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Acromicria, Syndact... OMIM:176270
Teebi Hypertelorism Syndrome 1
Widow's peak, Bicornuate uterus, Shawl scrotum, Highly arched eyebrow OMIM:145420
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Kallmann Syndrome
Hypoplasia of penis, Abnormal morphology of female internal genitalia, Hypogonadotropic hypogonad... ORPHA:478
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Insulin resistance ORPHA:2457
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... OMIM:619598
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Irregular menstruation, Congenital hypothyroidism... OMIM:101800
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Hip dysplasia, Cranial hyperostosis, Decreased response to growth hormone ... ORPHA:457240
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Oncogenic Osteomalacia
Tibial bowing, Abnormality of femur morphology, Fibrous dysplasia of the bones, Carcinoma, Increa... ORPHA:352540
Kennerknecht Syndrome
Agonadism, Long eyelashes, Hypoplasia of the uterus OMIM:600908
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Facial palsy, Abnormality of the metaphysis, Coarse metaphyseal trabecularization,... ORPHA:2780
Lenz-Majewski Hyperostotic Dwarfism
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Increase... ORPHA:2658
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... ORPHA:98754
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... ORPHA:98793
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Recurrent hypoglycemia, Hepatic s... OMIM:212140
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypoglycemia, Adenoma sebaceum, Increased circulating cortisol level, Ins... OMIM:131100
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Ce... OMIM:259720
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... ORPHA:177904
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Upp... ORPHA:2878
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Patchy osteosclerosis, Decreased response to growth hormone stimul... OMIM:241410
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... ORPHA:177901
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased ci... ORPHA:652
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Epistaxis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary ... OMIM:612840
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Aplasia/Hypoplasia of the radius, Split... ORPHA:2019
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Hypoplasia of the corpu... OMIM:300148
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Prader-Willi Syndrome
Premature adrenarche, Decreased inhibin B level, Diabetes mellitus, Hypertension, Infertility, Os... ORPHA:739
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... OMIM:601559
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus, Spina bifida occulta OMIM:617466
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Type I diabetes melli... ORPHA:3044
Otospondylomegaepiphyseal Dysplasia
Tibial bowing, Fibular bowing, Abnormally ossified vertebrae, Limb undergrowth, Epiphyseal dyspla... ORPHA:1427
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Pyelonephritis, Uterus didelphy... OMIM:140000
Woodhouse-Sakati Syndrome
Streak ovary, Alopecia, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal sper... ORPHA:3464
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261680
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hirsutism, Fused labia majora, Abnormal external genitalia, Abnormality of... ORPHA:90794
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing... OMIM:602111
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Cohen Syndrome
Neutropenia, Leukopenia, Tapered finger, Short metatarsal, Facial hypotonia, Thick corpus callosu... OMIM:216550
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Mali... ORPHA:300385
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hyperinsulinemia OMIM:613327
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis, Abnormal cerebral white matter morphology, Abnormal perivent... OMIM:618476
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypoglycemia, Diabetes mellitus, Glycosuria OMIM:616026
Oculodentodigital Dysplasia
Brittle hair, Finger syndactyly, Camptodactyly of finger, Hand polydactyly, Sparse hair, Fine hai... ORPHA:2710
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Tibial bowing, Broad long bones, Limb undergrowth, Multiple prenatal fra... OMIM:166210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Splenomegaly, Abn... ORPHA:3035
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Neutropenia, Leukemia, Metaphyseal irregularity, Diabetes mellitus, Pancyt... ORPHA:811
47,Xyy Syndrome
Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulat... ORPHA:8
Prader-Willi-Like Syndrome
Premature adrenarche, Decreased response to growth hormone stimulation test, Decreased inhibin B ... ORPHA:398073
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Splenomegaly, C... OMIM:608594
Microsporidiosis
Abnormality of the endometrium, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Infectious enceph... ORPHA:2552
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology, Femur fracture, Dilatio... OMIM:612301
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Azoospermia, Hypergonadotropic hypogon... ORPHA:280679
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Spondyloenchondrodysplasia
Hypertension, Metaphyseal dysplasia, Pancytopenia, Cerebral calcification, Bowing of the legs, Li... ORPHA:1855
Seckel Syndrome 10
Hypertension, Cone-shaped epiphysis, Elevated circulating follicle stimulating hormone level, Met... OMIM:617253
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Dent Disease
Enlarged epiphyses, Thin bony cortex, Rickets, Bowing of the legs, Metaphyseal irregularity, Dela... ORPHA:1652
Ulnar-Mammary Syndrome