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Gene: Cyp11b1 MGI:88583

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cytochrome P450, family 11, subfamily b, polypeptide 1

Synonyms:

Cyp11b-1, Cyp11b

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cyp11b1 mutations

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

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

Human diseases associated with Cyp11b1 (7 diseases)
Human diseases predicted to be associated with Cyp11b1 (645 diseases)

The table below shows human diseases associated to Cyp11b1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula...	OMIM:202010
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Abnormality of the...	OMIM:103900
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul...	ORPHA:556030
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400

The table below shows human diseases predicted to be associated to Cyp11b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula...	OMIM:202010
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome, Hyper...	OMIM:201910
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Abnormality of the...	OMIM:103900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita...	ORPHA:90791
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica...	ORPHA:231632
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul...	ORPHA:556037
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul...	ORPHA:556030
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H...	ORPHA:90790
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem...	ORPHA:168558
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ...	ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Hype...	OMIM:202110
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Hypertension, Increased circulatin...	OMIM:615830
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95512
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Atrial septal defect, Hypothyro...	ORPHA:769
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenit...	ORPHA:96181
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Hem...	OMIM:608709
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph...	ORPHA:213
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Clitoral hypertrophy, Enlarged ovaries, Overgr...	ORPHA:508
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ...	ORPHA:97282
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarctio...	ORPHA:95409
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level,...	OMIM:219090
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Pelvic mass, Reduced C-peptide le...	ORPHA:2126
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino...	OMIM:227810
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem...	ORPHA:427
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp...	ORPHA:681
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seiz...	ORPHA:361
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr...	OMIM:612079
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,...	ORPHA:528
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti...	ORPHA:90794
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulatin...	OMIM:612780
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr...	OMIM:601678
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat...	OMIM:614841
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh...	ORPHA:171876
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Rudiger Syndrome	Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, M...	OMIM:268650
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm...	OMIM:137920
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia...	OMIM:263800
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d...	ORPHA:324575
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m...	ORPHA:79086
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, T...	ORPHA:276580
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating...	ORPHA:314478
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas...	OMIM:146255
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima...	OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hype...	ORPHA:79237
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Hy...	ORPHA:90041
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fi...	ORPHA:79259
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Congenita...	OMIM:194080
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma,...	OMIM:232200
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Pancreatic fibrosis, Hepa...	OMIM:232220
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Elevated transferrin satur...	OMIM:613313
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal...	OMIM:618078
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod...	OMIM:612526
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Pr...	ORPHA:398079
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti...	ORPHA:3085
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Pparg-Related Familial Partial Lipodystrophy	Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ...	ORPHA:79083
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:99413
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:881
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:99226
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Lipodystrophy, Microcytic ane...	ORPHA:168569
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In...	OMIM:610947
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating ferr...	OMIM:602390
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:614842
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Hypertension, Type II diabetes ...	ORPHA:71529
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem...	OMIM:616113
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Hepatobla...	OMIM:130650
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis...	ORPHA:199299
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati...	OMIM:269700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia	OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Lipodystrophy, Congenital Generalized, Type 1	Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Umbilical hernia, Elevated hepatic transaminase,...	OMIM:608594
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	ORPHA:435934
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolem...	ORPHA:31824
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,...	ORPHA:293978
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsuline...	ORPHA:2849
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th...	OMIM:617872
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni...	OMIM:619151
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas...	ORPHA:2578
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Tyrosinemia, Type I	Acute hepatic failure, Hepatocellular carcinoma, Nephrocalcinosis, Renal Fanconi syndrome, Hypoph...	OMIM:276700
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level,...	ORPHA:247768
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hy...	ORPHA:2348
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion conce...	ORPHA:173
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Helix Syndrome	Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Hypertension, Bilateral renal agenesis, Bicornuate uterus, Vagin...	OMIM:191830
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor...	ORPHA:3411
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad...	OMIM:617053
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, External genital hy...	ORPHA:398069
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hepatic steatosis, Hypothyroidis...	ORPHA:93111
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokal...	OMIM:617913
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Ventricular septal defect, Congenital diaphragmatic hernia, Bicornuate ...	ORPHA:2143
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri...	OMIM:615524
Galactosemia I	Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ...	ORPHA:465508
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi...	ORPHA:682
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes ...	ORPHA:791
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem...	ORPHA:466677
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem...	OMIM:262190
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic...	OMIM:616033
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Hypothyroidism, Uterus didelphys	ORPHA:2491
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting re...	ORPHA:47159
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Congestive heart failure, Thrombocytopenia, Flexion contracture, Neutr...	OMIM:617303
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E...	OMIM:613885
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva...	ORPHA:90038
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail...	ORPHA:139507
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty...	ORPHA:263455
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan...	ORPHA:79644
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Omphalocele, Renal hypoplasia/aplasia, Cryptorch...	ORPHA:1756
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,...	OMIM:246200
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Ovotesti...	OMIM:611812
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy...	OMIM:606762
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter	OMIM:617577
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177901
Prune Belly Syndrome	Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ...	ORPHA:2970
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can...	OMIM:619573
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Vesicoureteral reflux, Nephr...	ORPHA:116
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary...	OMIM:228300
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting ...	ORPHA:276608
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A...	OMIM:154230
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela...	ORPHA:2965
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Bicornuate uterus	OMIM:258320
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Dysmenorrhea, Increased intraabdominal fat, Hepatic stea...	ORPHA:280365
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepatic fibrosis, Fasting hypog...	ORPHA:264580
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Asplen...	OMIM:615415
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Septate vagina, Vent...	OMIM:608978
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an...	OMIM:618280
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Increased connective tissue, Hiatus hernia,...	OMIM:606408
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym...	ORPHA:543
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital dia...	OMIM:601186
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Pseudotrisomy 13 Syndrome	Omphalocele, Renal agenesis, Ventricular septal defect, Adrenal hypoplasia, Dextrocardia, Cryptor...	OMIM:264480
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov...	ORPHA:505248
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio...	OMIM:620366
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Tenorio Syndrome	Hypoglycemia, Raynaud phenomenon, Enuresis, Syncope, Hypoinsulinemia	OMIM:616260
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Umbi...	OMIM:618188
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Obesity Due To Sim1 Deficiency	Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote...	ORPHA:369873
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart morphology, Per...	OMIM:263210
Fg Syndrome Type 1	Inguinal hernia, Hypospadias, Progressive flexion contractures, Cryptorchidism, Mitral valve prol...	ORPHA:93932
Alg9-Cdg	Omphalocele, Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Lipodystrophy, Ure...	ORPHA:79328
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia, Myoglobinuri...	ORPHA:57
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism...	ORPHA:79500
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Acute hepatic failure, D...	ORPHA:71212
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Nephroblastoma, Inguinal hernia, Enlarged kidney	OMIM:618272
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Telangiectasia of the skin, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovar...	ORPHA:276280
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit...	ORPHA:3157
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Pancreatic lymphangiect...	ORPHA:1655
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Renal tubular dysfunctio...	ORPHA:562
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli...	ORPHA:293964
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Micropen...	OMIM:278850
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, P...	ORPHA:464329
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolera...	ORPHA:2088
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated he...	OMIM:617253
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa...	OMIM:273395
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas...	OMIM:201475
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C...	OMIM:602579
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart...	OMIM:261740
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig...	OMIM:612651
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Hydrolethalus Syndrome 1	Omphalocele, Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atr...	OMIM:236680
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,...	OMIM:619476
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Omodysplasia 2	Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi...	OMIM:164745
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypo...	ORPHA:2470
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Hypertension...	OMIM:617595
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Septooptic Dysplasia	Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:182230
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamin...	ORPHA:230
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Microsporidiosis	Cholangitis, Myocarditis, Abnormality of the parathyroid gland, Urethritis, Prostatitis, Thyroidi...	ORPHA:2552
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal def...	OMIM:613457
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic re...	OMIM:200995
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Arthro...	OMIM:616258
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly...	OMIM:614921
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H...	OMIM:616026
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea	OMIM:600705
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev...	OMIM:613327
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, High-output congestive heart failure, Myoglobinuria, Ventricular tachycard...	ORPHA:423
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Renal malrotation, Decreased response to growth hormone stimulation tes...	OMIM:615866
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Anuria, Myocarditis, Leukocytosis, Thrombocyto...	ORPHA:544482
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Abnormality of the ur...	ORPHA:2438
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Ventricular septal defect, Congenital diaphragmatic hernia, Non-acidoti...	OMIM:222448
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati...	OMIM:608022
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul...	OMIM:614527
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ...	ORPHA:363444
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Timothy Syndrome	Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Patent foramen oval...	OMIM:601005
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Renal hy...	ORPHA:3138
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins...	OMIM:209900
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormon...	OMIM:618419
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Oeis Complex	Duplicated collecting system, Omphalocele, Hydroureter, Renal agenesis, Bifid uterus, Epispadias,...	OMIM:258040
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, E...	OMIM:613680
Opitz Gbbb Syndrome	Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Hypospadias, Atrial septal defect,...	ORPHA:2745
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f...	OMIM:619503
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lym...	OMIM:618886
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiom...	OMIM:252500
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Acromelic Frontonasal Dysplasia	Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li...	ORPHA:1827
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Fanconi Anemia	Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Abnormalit...	ORPHA:84
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97278
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Atrial septal defect, Hydroureter, Bicuspid aortic valve, Septate vagi...	OMIM:300707
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorc...	ORPHA:2059
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Micropenis, Flexion contracture, Hypospadias, Small pituitary gland	OMIM:619479
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horses...	ORPHA:140952
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Pulmonary venous hypertension, Abn...	ORPHA:79128
Teebi Hypertelorism Syndrome 1	Omphalocele, Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atria...	OMIM:145420
Mosaic Trisomy 9	Renal dysplasia, Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Camptodact...	ORPHA:99776
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Sudden cardiac death,...	ORPHA:991
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h...	ORPHA:31826
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal def...	OMIM:270400
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi...	ORPHA:264200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Abnormal hea...	ORPHA:286
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch...	OMIM:140000
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Prader-Willi Syndrome	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Un...	ORPHA:464306
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,...	OMIM:619991
Atypical Werner Syndrome	Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Renal neoplasm, Premature ovarian ins...	ORPHA:79474
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Inguinal hernia, Small scrotum, Anterior pituitary hypoplasia, Ventr...	OMIM:181450
Primary Ciliary Dyskinesia	Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen...	ORPHA:244
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphr...	OMIM:309801
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow ...	OMIM:200980
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ...	ORPHA:1359
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Fryns Syndrome	Omphalocele, Ureteral duplication, Bifid scrotum, Ectopic pancreatic tissue, Renal agenesis, Hypo...	OMIM:229850
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ...	ORPHA:177907
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tube morphology, ...	ORPHA:722
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Spider hemangioma, Cyclic neutropen...	OMIM:232240
Townes-Brocks Syndrome 1	Bifid scrotum, Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hypospadi...	OMIM:107480
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Ventricular septal def...	OMIM:206900
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia	ORPHA:958
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H...	ORPHA:137675
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer...	OMIM:619518
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes	ORPHA:563612
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Abnormality of th...	ORPHA:201
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Clitoral hypertrophy, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, G...	OMIM:618820
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, ...	OMIM:312870
Okamoto Syndrome	Omphalocele, Ventricular septal defect, Urinary incontinence, Bifid uterus, Splenomegaly, Abnorma...	ORPHA:2729
Meckel Syndrome, Type 1	Omphalocele, Hypoplasia of the bladder, Accessory spleen, Renal agenesis, Camptodactyly of finger...	OMIM:249000
Hydranencephaly	Dilatation of the ventricular cavity, Thalamic edema, Dysgenesis of the thalamus, Antenatal intra...	ORPHA:2177
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic lab...	OMIM:269150
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u...	ORPHA:3320
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H...	ORPHA:466650
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro...	ORPHA:273
African Trypanosomiasis	Urinary incontinence, Abnormal EKG, Hepatomegaly, Abnormality of the endocrine system, Abnormalit...	ORPHA:3385
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra...	OMIM:151050
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia...	OMIM:263650
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular...	ORPHA:466791
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesicoureteral reflux, Atrial ...	ORPHA:567
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Transient neutropenia, Chronic ...	ORPHA:500095
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Meckel Syndrome 14	Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Aplasia of the uterus, Polycysti...	OMIM:619879
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Hor...	OMIM:176450
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic...	OMIM:617925
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Rhombencephalosynapsis	Fusion of the left and right thalami, Abnormal renal morphology, Abnormality of the uterus	ORPHA:59315
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Ehlers-Danlos Syndrome, Vascular Type	Inguinal hernia, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism...	OMIM:130050
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal hypoplasi...	ORPHA:709
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect,...	ORPHA:672
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Decreas...	ORPHA:438213
Pmm2-Cdg	Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr...	ORPHA:79318
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Fraser Syndrome 1	Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal heart morpholog...	OMIM:219000
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Bifid uterus	ORPHA:2736
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Epistaxis, Anterior...	OMIM:619841
Fraser Syndrome	Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Crypt...	ORPHA:2052
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus, Renal hypoplasia/aplasia	ORPHA:1788
Neu-Laxova Syndrome 1	Renal agenesis, Ventricular septal defect, Bifid uterus, Cryptorchidism, Yellow subcutaneous tiss...	OMIM:256520
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Atrial septal defe...	ORPHA:857
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Atrial septal defect, Ventricular septal defect, Eosinop...	OMIM:274000
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of t...	OMIM:271520
Norrie Disease	Diabetes mellitus, Cryptorchidism, Erectile dysfunction, Uterine rupture, Delayed puberty	ORPHA:649
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibr...	ORPHA:93271
7Q11.23 Microduplication Syndrome	Inguinal hernia, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Congenital di...	ORPHA:96121
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Cryptorchidism, Renal hypoplasia, Hydronephrosis, Bicornuate u...	ORPHA:2363
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Congenital diaphragmatic hernia, Unilateral renal agenesis, Bicornuate...	OMIM:154400
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular se...	OMIM:261540
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Ankle flexion contracture, Ventricular sept...	OMIM:268300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Inguinal hernia, Aplasia of the vagina, Unilateral renal agenesis	ORPHA:457284
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Mitra...	OMIM:123700
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-paper scars...	ORPHA:287
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Cornelia De Lange Syndrome	Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insuf...	ORPHA:199
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Cardiac arrest, Uterine rupture	ORPHA:60030
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Inguinal hernia, Atrial fibrillation, Camptodactyly of finger, Abnormal hea...	ORPHA:284984
Coffin-Siris Syndrome 1	Inguinal hernia, Hydroureter, Hypospadias, Ventricular septal defect, Congenital diaphragmatic he...	OMIM:135900
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Thrombocytosis, Glomerulonephritis, I...	ORPHA:2968
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Bil...	OMIM:194190
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial septal defect, Inguinal hernia, Atrial fibrillation, Bicuspid aor...	OMIM:613795
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Anteriorly displaced genit...	OMIM:276820
Pallister-Killian Syndrome	Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Camptodactyly of...	OMIM:601803
Coffin-Lowry Syndrome	Uterine prolapse, Mitral regurgitation, Inguinal hernia	OMIM:303600

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cyp11b1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cyp11b1.

No publications found that use IMPC mice or data for Cyp11b1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cyp11b1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cyp11b1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cyp11b1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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