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Gene: Slc5a2 MGI:2181411

Gene Summary

Name:

solute carrier family 5 (sodium/glucose cotransporter), member 2

Synonyms:

Sglt2

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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 3)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 3)
Bone	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	0.0% (0 of 3)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 3)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 3)
Gall bladder	N/A	heterozygote	0.0% (0 of 3)
Heart	N/A	heterozygote	0.0% (0 of 3)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (3 of 3)
Large intestine	N/A	heterozygote	0.0% (0 of 3)
Liver	N/A	heterozygote	0.0% (0 of 3)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 3)
Lung	N/A	heterozygote	0.0% (0 of 3)
Lymph node	N/A	heterozygote	33.33% (1 of 3)
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Esophagus	N/A	heterozygote	0.0% (0 of 3)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	33.33% (1 of 3)
Oviduct	N/A	heterozygote	0.0% (0 of 3)
Pancreas	N/A	heterozygote	0.0% (0 of 3)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 3)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 3)
Peyer's patch	N/A	heterozygote	0.0% (0 of 3)
Pituitary gland	N/A	heterozygote	0.0% (0 of 3)
Prostate gland	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 3)
Small intestine	N/A	heterozygote	0.0% (0 of 3)
Spinal cord	N/A	heterozygote	0.0% (0 of 3)
Spleen	N/A	heterozygote	0.0% (0 of 3)
Stomach	N/A	heterozygote	0.0% (0 of 3)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	33.33% (1 of 3)
Thymus	N/A	heterozygote	Ambiguous
Thyroid gland	N/A	heterozygote	Ambiguous
Trachea	N/A	heterozygote	0.0% (0 of 3)
Uterus	N/A	heterozygote	33.33% (1 of 3)
White adipose tissue	N/A	heterozygote	0.0% (0 of 3)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

7 Images

View images

Legacy Phenotype Associated Images

Slc5a2^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Slc5a2^{tm1a(KOMP)Wtsi}
forearm, HOM, Male, WTSI

Slc5a2^{tm1a(KOMP)Wtsi}
head, HOM, Female, WTSI

View all 70 images

Slc5a2^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Slc5a2^{tm1a(KOMP)Wtsi}
eye, mydriasis, abnormal pupil morphology, HOM, Male, WTSI

Human diseases caused by Slc5a2 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 Slc5a2 (2 diseases)
Human diseases predicted to be associated with Slc5a2 (1003 diseases)

The table below shows human diseases associated to Slc5a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Renal Glucosuria		Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Familial Renal Glucosuria		Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076

The table below shows human diseases predicted to be associated to Slc5a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia	OMIM:222100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Hypouricemia, Large for gestatio...	OMIM:616026
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General...	OMIM:613388
Fanconi-Bickel Syndrome	Osteopenia, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemi...	ORPHA:2088
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Rickets, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu...	OMIM:615605
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss...	OMIM:300009
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hyp...	OMIM:227810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib...	OMIM:612286
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p...	ORPHA:157215
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l...	OMIM:619468
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Transi...	ORPHA:552
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit...	ORPHA:223
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Ren...	ORPHA:18
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul...	ORPHA:263455
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ...	ORPHA:2089
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Cystinosis	Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Hypothyroidism, Rickets, Renal ...	ORPHA:213
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem...	OMIM:615751
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:99886
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ...	ORPHA:411629
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Recurrent fractures, Hypercalcemia, Primary hyperparathy...	OMIM:239200
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:241200
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Glucose/Galactose Malabsorption	Failure to thrive, Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat...	OMIM:613677
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin...	ORPHA:2298
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron...	ORPHA:199343
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Cataract 47	Glycosuria	OMIM:612018
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab...	OMIM:241530
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polyuria, Megacystis, Polydipsia, Hypernatremia, Diabetes insipidus	OMIM:304800
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Parathormone-independent increased renal t...	ORPHA:405
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephrocalcinosis, Ren...	OMIM:613404
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycem...	ORPHA:329249
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Hypoparathyroidism, Hypercalcemia, Hypercalciuria...	OMIM:156400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Autosomal Dominant Hypocalcemia	Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ...	ORPHA:428
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p...	ORPHA:352540
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati...	OMIM:610600
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hypercalcemia, Infantile, 1	Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephr...	OMIM:143880
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El...	OMIM:612089
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Ano...	ORPHA:3008
Lcat Deficiency	Renal insufficiency, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney disease, Acute kid...	ORPHA:650
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Mccune-Albright Syndrome	Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Osteomalacia, Recurrent fractu...	ORPHA:562
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati...	OMIM:307800
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas...	OMIM:613845
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:264350
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di...	ORPHA:71529
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Isolated Osteopoikilosis	Increased bone mineral density, Abnormally ossified vertebrae, Autoimmunity, Abnormality of the k...	ORPHA:166119
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ...	OMIM:229600
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr...	OMIM:203400
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Increased...	ORPHA:289176
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Prader-Willi syndrome (Type 1)	Feeding difficulties in infancy, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Feeding difficulties in infancy, Truncal obesity	DECIPHER:53
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Diabetes insipidus	ORPHA:95626
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Recurrent fractures, Precocious puberty, Horseshoe kidney, Hypopho...	OMIM:163200
Gitelman Syndrome	Polydipsia, Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria...	OMIM:263800
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ...	OMIM:606528
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse ...	OMIM:264700
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Polyphagia...	OMIM:606407
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
3-Methylglutaconic Aciduria Type 1	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Myasthenia Gravis	Hyperthyroidism, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine k...	ORPHA:589
Orthostatic Hypotension 2	Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Pseudohypoparathyroidism, Type Ib	Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Nephrolithiasis, Osteolysis, A...	ORPHA:93160
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc...	ORPHA:289157
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Immunodeficiency, Common Variable, 11	Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in...	OMIM:615767
Adenocarcinoma Of The Esophagus	Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob...	ORPHA:99976
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo...	OMIM:300539
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu...	ORPHA:85138
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Hypocalciuria, Increase...	OMIM:612780
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Anorexia, Decreased urinary potassium, Renal salt wasting, ...	ORPHA:95409
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Diabetes mellitus	OMIM:602475
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Obesity, Pseudohypo...	OMIM:612462
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi...	OMIM:601198
Leptin Deficiency Or Dysfunction	Micropenis, Hypogonadism, Polyphagia, Decreased serum leptin	OMIM:614962
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Pseudohypoparathyroidism Type 2	Calcinosis, Autoimmune antibody positivity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated...	ORPHA:94090
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Renal s...	ORPHA:90791
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Hereditary Coproporphyria	Dark urine, Hyponatremia, Abnormal circulating porphyrin concentration, Porphyrinuria, Atypical s...	ORPHA:79273
Hyper-Beta-Alaninemia	Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia	OMIM:237400
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Abnormality of circul...	ORPHA:320
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Ost...	ORPHA:143
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Hypertriglyceridemia, Ele...	OMIM:617253
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Recurrent fr...	OMIM:239000
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ...	OMIM:617638
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Polyphagia, Hyperinsulinemia, Obesity	OMIM:618406
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Hypertryptophanemia	Camptodactyly of finger, Aggressive behavior, Hypertryptophanemia, Hypersexuality, Generalized jo...	OMIM:600627
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Hyperparathyroidism, Cortical scl...	OMIM:620366
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density	ORPHA:2611
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossification, Hyperphosphatemia, El...	OMIM:103580
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis...	ORPHA:411593
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia, Hypoglycemia	OMIM:608688
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Abnormal c...	ORPHA:100924
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Ost...	ORPHA:99880
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Immunodeficiency 61	Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Obesity, A...	OMIM:300310
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia	OMIM:617671
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency, Dysphagia	OMIM:619027
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy...	ORPHA:2126
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test...	ORPHA:94089
Stimmler Syndrome	Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology	ORPHA:3199
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti...	OMIM:617885
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Immunodeficiency 37	Colitis, Infectious encephalitis, Decreased circulating antibody level	OMIM:616098
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lipoatrophy, Autoimmunity, Insulin resistance, Microscopic hematuria	ORPHA:79087
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome	OMIM:201910
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Autoimmunity, Autoimmune hypoparathyroid...	ORPHA:36913
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia	OMIM:620195
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Aut...	ORPHA:275555
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia	OMIM:615986
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Anorexia, ...	OMIM:619386
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis	OMIM:617006
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Autoimmunit...	ORPHA:199299
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate...	OMIM:619743
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic...	ORPHA:488627
Senior-Boichis Syndrome	Elevated hepatic transaminase, Polydipsia, Thickening of the tubular basement membrane, Portal hy...	ORPHA:84081
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Galactosemia Iii	Failure to thrive, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Glycosuria, Failure to t...	OMIM:616539
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Osteoporosis, D...	ORPHA:369
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ...	OMIM:618108
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency, Dysphagia	OMIM:610250
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Hypertriglyceridemia, Minimal change glome...	ORPHA:567548
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:277440
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre...	ORPHA:251004
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Panhypophysitis	Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R...	ORPHA:95513
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to...	OMIM:602722
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:231580
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal ...	OMIM:232200
Galactokinase Deficiency	Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Increa...	ORPHA:79237
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali...	ORPHA:446
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve...	OMIM:300635
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia, Aciduria	OMIM:617950
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ect...	ORPHA:280062
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti...	ORPHA:85450
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Camptodactyly 1	Increased urinary taurine, Camptodactyly of finger	OMIM:114200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone st...	OMIM:614732
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Abnormality of the urinary system	ORPHA:2204
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re...	ORPHA:79474
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal...	ORPHA:79644
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large...	OMIM:619281
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce...	ORPHA:417
Buschke-Ollendorff Syndrome	Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Pearson Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Small for gestational ag...	ORPHA:699
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Abnormal dental enamel morphology, ...	ORPHA:1031
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95512
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Propionic Acidemia	Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Refractory Celiac Disease	Autoimmune antibody positivity, Osteoporosis, Weight loss, Hypophosphatemia, Hypoalbuminemia, Hyp...	ORPHA:398063
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi...	ORPHA:199296
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injurious behavior, Co...	OMIM:613670
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c...	OMIM:610947
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis	OMIM:615198
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Scarring, Abnormal circulating porphyrin concentration, Chronic...	ORPHA:79473
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration	OMIM:615508
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Organic aciduria, Hypoglycemia	OMIM:614741
Majeed Syndrome	Glomerulopathy, Failure to thrive, Increased bone mineral density, Proteinuria, Osteomyelitis, Ca...	ORPHA:77297
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hereditary Fructose Intolerance	Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi...	ORPHA:469
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Fibrous Dysplasia Of Bone	Thin bony cortex, Diabetes mellitus, Cortical irregularity, Osteomalacia, Hypercalcemia, Hyperthy...	ORPHA:249
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D...	OMIM:618394
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp...	OMIM:146200
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Adrenal hypoplasia, ...	OMIM:617053
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Wolcott-Rallison Syndrome	Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d...	ORPHA:1667
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Polyuria	OMIM:560000
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De...	ORPHA:79159
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic...	ORPHA:289504
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi...	OMIM:620085
3-Methylglutaconic Aciduria Type 4	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67048
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Snakebite Envenomation	Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Acute kidney injury	ORPHA:449285
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Autoimmunity, Mesangial hyp...	ORPHA:329918
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ...	ORPHA:447
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Autoimmunity, Decreased response to growth hormone stimulation test, Precocious pub...	ORPHA:91354
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi...	ORPHA:534
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokale...	OMIM:617913
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal ...	OMIM:232220
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	OMIM:214700
Acute Intermittent Porphyria	Dark urine, Restlessness, Renal insufficiency, Hyponatremia, Dysuria, Urinary incontinence, Porph...	ORPHA:79276
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, Dexamethaso...	ORPHA:369929
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hype...	OMIM:618120
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Autoimmunity, Large for gestational age, Increased circulating free fatt...	ORPHA:293964
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai...	OMIM:239199
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ...	OMIM:619048
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Enuresis, Hypoinsulinemia	OMIM:616260
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Anti-GAD...	OMIM:616033
Adiposis Dolorosa	Abdominal distention, Constipation, Obesity	OMIM:103200
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Osteoporosis	OMIM:204730
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:30925
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia,...	OMIM:109130
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Hematuria, Cellulitis	ORPHA:549
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Autoimmunity, Insulin-resistant diabetes mellitus, Insulin res...	ORPHA:79086
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Shigellosis	Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Ur...	ORPHA:810
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hypoglycemia, Elevated circulating branched ch...	ORPHA:2394
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Hartsfield Syndrome	Hypospadias, Craniosynostosis, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insip...	OMIM:615465
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Craniosynos...	OMIM:241500
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Melorheostosis	Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Hyperostos...	ORPHA:2485
Galactosemia I	Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Albuminuria, Aminoacidur...	OMIM:230400
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density, Oligos...	ORPHA:163649
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Glomerulonephritis, Decreased r...	ORPHA:470
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Scorpion Envenomation	Restlessness, Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating cre...	ORPHA:466677
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ...	OMIM:209920
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos...	ORPHA:416
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Polyphagia, Self-injurious behavior, Abnormal repetitive mann...	ORPHA:228402
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki...	OMIM:615547
Intellectual Developmental Disorder, X-Linked 90	Enuresis, Attention deficit hyperactivity disorder	OMIM:300850
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi...	OMIM:608612
Cranioectodermal Dysplasia 1	Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney...	OMIM:218330
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina...	ORPHA:85188
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive	OMIM:614739
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Lipodystroph...	OMIM:608594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Summitt Syndrome	Obesity	OMIM:272350
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Anorexia, Osteoarthritis, Osteolysis, He...	ORPHA:77259
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem...	ORPHA:90790
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody...	OMIM:614602
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra...	ORPHA:411696
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Tyrosinemia Type 1	Generalized aminoaciduria, Rickets of the lower limbs	ORPHA:882
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hypoglycemia, Hyperlipidemia, Hematuria, Focal segmental glomer...	OMIM:232240
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia	OMIM:617119
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa...	ORPHA:98813
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Osteoporosis, ...	ORPHA:398079
Immunodeficiency 76	Chronic diarrhea, Colitis, Recurrent pneumonia	OMIM:619164
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec...	OMIM:614878
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, O...	ORPHA:340
14Q11.2 Microduplication Syndrome	Hypothyroidism, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Renal steatosis, Hypoglycemia	OMIM:261650
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasi...	OMIM:600001
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Whipple Disease	Hyponatremia, Cachexia, Anorexia, Insulin resistance, Arthritis, Polydipsia, Hypothyroidism	ORPHA:3452
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Phenylketonuria	Aminoaciduria	ORPHA:716
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Insu...	ORPHA:902
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa...	OMIM:210200
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Spastic Paraplegia 8, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagia	OMIM:603563
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ...	OMIM:301074
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Short Stature, Dauber-Argente Type	Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio...	OMIM:619489
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis	OMIM:266150
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Anterior uveitis, Colitis, Skin rash	OMIM:616744
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, 3-Met...	OMIM:246450
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,...	OMIM:122860
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell...	OMIM:617575
Spastic Paraplegia 4, Autosomal Dominant	Urinary incontinence, Aggressive behavior, Urinary urgency, Agitation, Disinhibition, Urinary bla...	OMIM:182601
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium	OMIM:611489
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Large for gestational age	ORPHA:2432
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Abnormal bone ossificati...	ORPHA:79324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes...	ORPHA:293987
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with ...	ORPHA:525731
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:605280
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604805
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Impulsivity, Aggressive behavior, Hypophosphaturia, Localized hypoplasi...	ORPHA:73223
Wagro Syndrome	Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp...	OMIM:612469
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat...	OMIM:259700
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Renal salt wasting, Abnormal...	ORPHA:275761
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607152
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting...	ORPHA:90795
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Failure to thrive, Hyperta...	OMIM:245400
Alg8-Cdg	Hyponatremia, Small for gestational age, Abnormality of subcutaneous fat tissue, Camptodactyly, F...	ORPHA:79325
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Raine Syndrome	Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Arth...	OMIM:259775
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Osteoporosi...	ORPHA:398069
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Failure to thrive, Pneumonia, Erythema nodosum, Chronic diar...	OMIM:614700
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Oliguria, Anorexia, Central hypothyroi...	ORPHA:514
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Anorexia, Elevated circulating C-reactive protein concentration, Wei...	OMIM:619381
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Elevated circulating...	ORPHA:42
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Wolfram Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Male hypogonadism, Abnormality of...	ORPHA:3463
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Autosomal Recessive Spastic Paraplegia Type 15	Diabetes mellitus, Pseudobulbar paralysis, Functional abnormality of the bladder	ORPHA:100996
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Polyphagia	ORPHA:177910
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g...	OMIM:261680
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency, Attention deficit hyperactivity disorder	OMIM:618878
12Q14 Microdeletion Syndrome	Diabetes mellitus, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Failure t...	ORPHA:94063
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ...	ORPHA:791
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Propionic Acidemia	Increased level of hippuric acid in urine, Hypoglycemia, Osteoporosis, Hyperglycinuria, Hyperammo...	OMIM:606054
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea...	OMIM:301220
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Maple Syrup Urine Disease	Elevated circulating L-alloisoleucine concentration, Increased level of hippuric acid in urine, E...	OMIM:248600
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria...	OMIM:604273
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis...	ORPHA:2323
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Recurrent sinusitis, Decreased circulating antibody level	OMIM:613101
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Recurrent fractures, Abnormality of the kidney...	ORPHA:1764
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F...	OMIM:616050
Pituitary Apoplexy	Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder, Autoimmune antibody positivity	ORPHA:71211
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Failure to thrive in infancy, Osteomalacia, Adrenal calcification, Nephrocalci...	ORPHA:51608
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:100994
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter	ORPHA:411515
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Urinary incontinence, Elevated circulating creatine kinase...	ORPHA:306511
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Unilateral renal agenesis, Neonatal epiphyseal stippling, Elevated cir...	OMIM:101800
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti...	ORPHA:90060
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Enuresis, Tics, Attention deficit hyperact...	ORPHA:66624
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis	ORPHA:375
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis, Decreased circulating antibody level	OMIM:615190
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,...	OMIM:210210
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu...	OMIM:615160
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Hyperkalemia, Oliguria, Hypocalcemia, Septic arthritis, ...	ORPHA:544482
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Oculoskeletodental Syndrome	Renal agenesis, Small for gestational age, Hypercalcemia, Elbow flexion contracture, Hypercalciur...	OMIM:618440
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of...	ORPHA:3157
Overlap Myositis	Diabetes mellitus, Autoimmunity, Abnormality of the kidney, Elevated circulating creatine kinase ...	ORPHA:206572
Congenital Generalized Lipodystrophy	Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Precocious puberty in females, Adipose ti...	ORPHA:528
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin-resistant diabet...	ORPHA:769
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Osteopenia, Ca...	OMIM:248370
D-Glyceric Aciduria	Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis, Failure to...	OMIM:220120
Xanthinuria, Type I	Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr...	OMIM:278300
Hsd10 Disease, Infantile Type	Restlessness, Hypoglycemia, Hyperammonemia, Dysphagia, Abnormal concentration of acylcarnitine in...	ORPHA:391428
Holoprosencephaly	Omphalocele, Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Con...	ORPHA:2162
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:613096
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:600363
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir...	ORPHA:230
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ...	ORPHA:363400
Xq28 (MECP2) duplication	Failure to thrive, Functional abnormality of the bladder, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Decreased ...	ORPHA:540
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive	OMIM:615453
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Hypogonadotropic hyp...	ORPHA:35687
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki...	ORPHA:423
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, ...	ORPHA:90036
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Hyp...	OMIM:251000
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Spastic Paraplegia 16, X-Linked	Urinary urgency, Restlessness, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:300266
Cortisone Reductase Deficiency 1	Acne, Obesity	OMIM:604931
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E...	OMIM:605850
Spastic Paraplegia 3, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182600
Prader-Willi Syndrome	Osteopenia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to gr...	OMIM:176270
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Urinary incontinence, Neonatal hyperbilirubinemia, Hiatus hernia, Urinary urgency,...	OMIM:609727
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t...	ORPHA:231625
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607565
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Orthostatic Hypotension 1	Joint hypermobility, Reduced circulating prolactin concentration, Nocturia, Increased blood urea ...	OMIM:223360
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur...	OMIM:145980
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
6Q16 Microdeletion Syndrome	Polyphagia, Abnormal temper tantrums	ORPHA:171829
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ...	ORPHA:178320
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria	OMIM:248360
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus	OMIM:618252
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal o...	ORPHA:633
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Diabetes mellitus	OMIM:249270
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein concentration, Anti...	ORPHA:49041
Glutaric Acidemia I	Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai...	OMIM:231670
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, Increased ...	OMIM:219090
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular e...	ORPHA:91500
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia	ORPHA:79084
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia...	OMIM:201750
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr...	OMIM:203800
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat...	ORPHA:2137
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal...	ORPHA:73272
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Hypoglycemia, Elevated circulating creatine kinase concentration, Amin...	OMIM:619055
Perlman Syndrome	Inguinal hernia, Hypoplasia of penis, Femoral hernia, Hyperinsulinemia, Nephroblastoma	ORPHA:2849
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci...	OMIM:620300
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron...	ORPHA:911
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral av...	ORPHA:134
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,...	OMIM:618999
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia	OMIM:201450
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating...	OMIM:619802
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ...	ORPHA:2905
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmunity, Autoimmune thrombocytopen...	ORPHA:760
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Prader-Willi Syndrome	Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ...	ORPHA:739
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent fractures, Elev...	ORPHA:355
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephroc...	OMIM:208085
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:609220
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalci...	ORPHA:508
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti...	ORPHA:101330
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In...	ORPHA:158061
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Hepatic Veno-Occlusive Disease	Increased body weight, Abdominal pain	ORPHA:890
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Severe failure to thrive, ...	OMIM:246200
Lassa Fever	Jaundice, Oliguria, Dysphagia	ORPHA:99824
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Rabin-Pappas Syndrome	Tracheomalacia, Hyponatremia, Failure to thrive in infancy, Obesity	OMIM:620155
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Hypoglycemia, H...	OMIM:307030
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I...	ORPHA:324964
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Gaucher Disease Type 3	Increased bone mineral density, Proteinuria, Osteolysis, Increased susceptibility to fractures, H...	ORPHA:77261
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriu...	ORPHA:90041
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma...	ORPHA:209905
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Jaundice, Oliguria,...	ORPHA:731
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hepatic fai...	ORPHA:159
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm...	OMIM:212138
Schwartz-Jampel Syndrome	Hip contracture, Inguinal hernia, Increased bone mineral density, Abnormally ossified vertebrae, ...	ORPHA:800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:264580
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Liver Disease, Severe Congenital	Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Joint laxity, Hyponatremia, Hyp...	OMIM:619991
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ...	ORPHA:67
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Joint laxity, Hypoglycemia, Small for gestational age, Conjugated h...	OMIM:617093
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Increased body mass index, Constipation, Increased body weight	OMIM:614450
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:26791
Cebalid Syndrome	Polyphagia	OMIM:618774
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hypospadias, Hyperactivity, Unilateral renal agenesis, Congenital...	ORPHA:96121
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613327
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,...	ORPHA:667
Otopalatodigital Syndrome Type 2	Omphalocele, Carpal synostosis, Increased bone mineral density, Hypospadias, Camptodactyly of fin...	ORPHA:90652
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, N...	ORPHA:348
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence, Dysphagia	OMIM:616795
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Hypoglycemia	OMIM:229700
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur...	OMIM:615398
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Dysphagia	ORPHA:220393
Renal Tubular Acidosis Iii	Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcino...	OMIM:267200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Desmosterolosis	Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Osteopetrosis, Failure ...	ORPHA:35107
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intoleran...	OMIM:606721
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive	OMIM:614520
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, I...	OMIM:618476
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Feeding difficulties in infancy, Increased body weight, Constipation, Gastroesophageal reflux, Re...	ORPHA:589905
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Restlessness, Aggressive behavior, Generalized joint laxity, Increased susceptibility...	ORPHA:251028
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche,...	OMIM:616878
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu...	ORPHA:91351
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Man1B1-Cdg	Truncal obesity, Polyphagia, Joint hypermobility	ORPHA:397941
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Hyperinsul...	ORPHA:785
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Anorexia, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syn...	OMIM:557000
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Acute kidney injury, Decreased urine output	ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Hyperlipidemia, Anuria, Acute kidney injury	OMIM:235400
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Aggressive behavior, Increased circulating ACTH level, Disinhi...	ORPHA:43
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub...	ORPHA:904
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Pycnodysostosis	Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre...	ORPHA:763
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Paraganglioma of head and neck, Elevated urina...	ORPHA:653
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Increased bone mineral density, Femoral hernia, Hypos...	ORPHA:2658
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr...	OMIM:156200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:480864
Adnp Syndrome	Joint laxity, Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Oral-pha...	ORPHA:404448
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti...	ORPHA:2686
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Limitation of jo...	ORPHA:206583
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis...	ORPHA:95496
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Self-injurio...	ORPHA:72
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Congenital hy...	ORPHA:93325
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-...	OMIM:617156
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Osteopetrosis	OMIM:618541
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ...	OMIM:259720
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Japanese Encephalitis	Hyponatremia, Stiff neck, Anorexia, Elbow flexion contracture, Inappropriate antidiuretic hormone...	ORPHA:79139
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hy...	OMIM:251880
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U...	OMIM:618935
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add...	ORPHA:31826
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e...	ORPHA:1782
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus	ORPHA:90033
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplas...	OMIM:214110
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Hypoglycemia	OMIM:611126
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Small for gestational age, Abdominal distentio...	ORPHA:90051
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism	OMIM:273400
Hyperlipoproteinemia, Type Id	Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Luscan-Lumish Syndrome	Advanced ossification of carpal bones, Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Adrenoleukodystrophy	Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Attention deficit hyperactivit...	OMIM:300100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Oroticaciduria,...	OMIM:222700
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,...	ORPHA:309031
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Autoimmune thrombo...	ORPHA:391487
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Mpi-Cdg	Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Congenital Disorder Of Glycosylation, Type Iil	Chronic diarrhea, Decreased specific anti-polysaccharide antibody level, Esophageal varix, Inflam...	OMIM:614576
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Nephrocalcinosis, Joint contracture, Failure to thrive, Hypothyroidism	OMIM:618005
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis	OMIM:600501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Hyperlipidemia, Osteoporosis, Nephro...	ORPHA:79259
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Fulminant hepatitis, Oliguria, Dysphagia, Inc...	ORPHA:319213
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Elevated circulating creatine kinase concentration, Nephrolithiasis, Proxima...	ORPHA:2785
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hor...	OMIM:615873
Argininosuccinic Aciduria	Oroticaciduria, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, ...	OMIM:207900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi...	OMIM:600785
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin...	OMIM:617718
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic...	OMIM:131300
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Weight lo...	ORPHA:99867
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Abnormal circulating cholesterol conce...	OMIM:602398
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, A...	ORPHA:227990
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Failure to thrive	ORPHA:2609
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti...	ORPHA:29207
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, A...	ORPHA:227982
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Elevated hepatic iron concentration	OMIM:614946
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c...	OMIM:131100
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism	OMIM:617027
Distal Deletion 10Q	Failure to thrive, Craniosynostosis, Aggressive behavior, Functional abnormality of the bladder, ...	ORPHA:96148
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Epiphyseal stippling, Albuminuria, Aminoaciduria, Dysphagia, Ele...	OMIM:214100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Enamel hypomineralization, Increased bone mineral density	ORPHA:3352
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Early onset of sexual mat...	OMIM:194050
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Abnormality of the adrenal glands, Dysphagia, Aggressive behavior	ORPHA:289483
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ...	ORPHA:3261
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Osteopetrosis	OMIM:615085
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenocortical adenoma, Decreased circulat...	ORPHA:231632
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Streak ovary, Decreased response to growt...	ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior...	OMIM:620330
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Elevated hemoglobin A1c, Anterior pituitary hypoplas...	OMIM:616113
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level...	OMIM:606812
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Primary hyperaldosteronism, Nephrolithiasis, Decreased circulating renin level	OMIM:615474
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo...	ORPHA:1798
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Large for gestational age, Feeding difficulties in infancy, Overgrowth...	ORPHA:254534
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Friedreich Ataxia	Diabetes mellitus, Urinary bladder sphincter dysfunction, Dysphagia	ORPHA:95
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:254892
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ...	OMIM:615895
Low Phospholipid-Associated Cholelithiasis	Abdominal colic, Cholangitis, Overweight, Obesity, Sclerosing cholangitis, Neoplasm of the liver,...	ORPHA:69663
Acute Promyelocytic Leukemia	Hematuria, Addictive alcohol use, Anorexia	ORPHA:520
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux	OMIM:201475
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Inguinal hernia, Small for gestatio...	OMIM:613658
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu...	OMIM:124000
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc...	ORPHA:33364
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism	OMIM:605635
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ...	ORPHA:79408
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Vesicoureteral ...	ORPHA:116
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Wilson Disease	Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,...	ORPHA:905
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i...	ORPHA:3260
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Bloody diarrhea, Colitis, ...	ORPHA:84064
Foix-Alajouanine Syndrome	Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence	ORPHA:79093
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Weaver Syndrome	Inguinal hernia, Limited elbow extension, Camptodactyly, Limited knee extension, Umbilical hernia...	OMIM:277590
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Joint stiff...	ORPHA:1606
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t...	ORPHA:562639
Interstitial Lung And Liver Disease	Aminoaciduria, Failure to thrive, Hypothyroidism, Hyperammonemia	OMIM:615486
Igg4-Related Thyroid Disease	Nodular goiter, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with di...	ORPHA:64744
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Acquired Aneurysmal Subarachnoid Hemorrhage	Addictive alcohol use, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Musculocontractural Ehlers-Danlos Syndrome	Inguinal hernia, Craniosynostosis, Generalized joint laxity, Functional abnormality of the bladde...	ORPHA:2953
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Abnormal ...	ORPHA:221008
Smith-Magenis Syndrome	Velopharyngeal insufficiency, Constipation, Increased body weight	OMIM:182290
Alkaptonuria	Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa...	ORPHA:56
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C...	ORPHA:171
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Wiskott-Aldrich Syndrome	Eczema, Increased circulating IgA level, Hematemesis, Diarrhea, Increased circulating IgE level, ...	OMIM:301000
Andersen-Tawil Syndrome	Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia	ORPHA:37553
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Increased body weight	ORPHA:64745
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Failure to thrive in infancy, Autoimmunity, High urinary gonadotropin level, Renal hy...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Failure to thrive in infancy, Autoimmunity, High urinary gonadotropin level, Renal hy...	ORPHA:99228
Monosomy X	Osteopenia, Failure to thrive in infancy, Autoimmunity, High urinary gonadotropin level, Renal hy...	ORPHA:99226
Turner Syndrome	Osteopenia, Failure to thrive in infancy, Autoimmunity, High urinary gonadotropin level, Renal hy...	ORPHA:881
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Addictive alcohol use, Increased circulating procalcitonin concentration	ORPHA:36238
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Abnormal ...	ORPHA:2909
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem...	ORPHA:707
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Sotos Syndrome	High, narrow palate, Increased body weight, Narrow palate, Feeding difficulties, High palate, Gas...	OMIM:117550
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Abnormal ...	ORPHA:221016
Pigmented Nodular Adrenocortical Disease, Primary, 4	Acne, Increased body weight	OMIM:615830
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Thickened cortex of...	OMIM:269150
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Ectopic kidney, Aggressive behavior, Hypothyroidism, Obesit...	OMIM:607872
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Sarcoidosis, Susceptibility To, 1	Anorexia, Bone cyst, Hypercalciuria, Weight loss, Arthritis	OMIM:181000
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Osteogenesis Imperfecta	Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Recurr...	ORPHA:666
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Narcolepsy 7	Obesity	OMIM:614250
X-Linked Intellectual Disability, Armfield Type	Inguinal hernia, Aminoaciduria, Organic aciduria, Galactosuria, Limited elbow extension	ORPHA:85276
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret...	OMIM:619573
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio...	ORPHA:906
Cardiogenic Shock	Oliguria	ORPHA:97292
Sarcoidosis	Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Scarring, Hypercalcemia, Bone cyst, Nep...	ORPHA:797
Cleidocranial Dysplasia 1	Enamel hypoplasia, Increased bone mineral density, Delayed pubic bone ossification, Increased sus...	OMIM:119600
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Lipodystrophy, Hypogonadotrop...	ORPHA:79318
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Joint hypermobility	OMIM:300990
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating aspartate aminotransferase concentration, Jaund...	ORPHA:99829
Xeroderma Pigmentosum	Craniofacial hyperostosis, Aminoaciduria, Failure to thrive, Hypogonadism	ORPHA:910
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Diarrhea, Hepatocellular adenoma, Increased body weight, Vomiting, Hepatocellular carcinoma, Nausea	ORPHA:79240
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Cystic Fibrosis	Failure to thrive, Hypercalciuria	OMIM:219700
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Obesity	ORPHA:70591
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Cirrhotic Cardiomyopathy	Jaundice, Addictive alcohol use	ORPHA:57777
Superficial Siderosis	Functional abnormality of the bladder	ORPHA:247245
Hellp Syndrome	Increased body weight, Vomiting, Nausea, Abdominal pain	ORPHA:244242
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Mowat-Wilson Syndrome	Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten...	ORPHA:2152
Cushing Disease	Acne, Increased body weight, Recurrent cutaneous fungal infections, Truncal obesity, Abdominal ob...	ORPHA:96253
Secondary Intestinal Lymphangiectasia	Secondary hyperaldosteronism, Hypocholesterolemia	ORPHA:90363
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Anorexia, Diarrhea, Incre...	ORPHA:99889
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neoplasm of the rectum, Abdo...	ORPHA:1359

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.

Phenotype	Allele	Zygosity	Life Stage
Pancreas - hypoplasia	Slc5a2^{tm1a(KOMP)Wtsi}	HOM	Early adult
Liver - lipid deposition	Slc5a2^{tm1a(KOMP)Wtsi}	HOM	Early adult
Liver - MPATH diagnostic term steatosis	Slc5a2^{tm1a(KOMP)Wtsi}	HOM	Early adult

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 Slc5a2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Slc5a2^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Slc5a2^{tm1a(KOMP)Wtsi}	PMC6459510
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Slc5a2^{tm1a(KOMP)Wtsi}	PMC4631787
Sodium-glucose transporter-2 (SGLT2; SLC5A2) enhances cellular uptake of aminoglycosides.	PloS one (September 2014)	Slc5a2^{tm1a(KOMP)Wtsi}	PMC4182564
Expression of Na+-D-glucose cotransporter SGLT2 in rodents is kidney-specific and exhibits sex and species differences.	American journal of physiology. Cell physiology (January 2012)	Slc5a2^{tm1a(KOMP)Wtsi}	PMC3774553

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
Slc5a2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc5a2^{tm1e(KOMP)Wtsi}	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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Gene: Slc5a2 MGI:2181411

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Slc5a2 mutations

Histopathology

IMPC related publications

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