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Gene: Crh MGI:88496

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
corticotropin releasing hormone
Synonyms:
LOC383938,  corticotropin-releasing factor,  CRF,  corticotropin releasing factor

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Crh mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder ORPHA:98784

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi-Bickel Syndrome
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulati... ORPHA:2088
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... ORPHA:263455
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... ORPHA:2298
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... OMIM:616026
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Osteoporosis, Increased ... ORPHA:189427
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Nephrocalcinosi... ORPHA:90041
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca... OMIM:613388
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... ORPHA:213
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Elevated circulating a... OMIM:227810
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... OMIM:203800
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Abnormality of the kidney,... ORPHA:369
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... OMIM:610947
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... ORPHA:99879
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:85138
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... ORPHA:528
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... OMIM:613845
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab... OMIM:241530
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... OMIM:143880
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... OMIM:222100
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Decreased urinary p... ORPHA:95409
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hem... OMIM:608709
Adrenocortical Carcinoma
Increased urinary cortisol level, Striae distensae, Diabetes mellitus, Paradoxical increased cort... ORPHA:1501
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p... ORPHA:157215
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... ORPHA:2089
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Hepatocellular carcinoma,... OMIM:232200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
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
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:614732
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno... OMIM:239200
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia,... ORPHA:2348
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... ORPHA:275555
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... OMIM:300009
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ob... OMIM:219090
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu... OMIM:615605
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia, Lipodystrophy... OMIM:248370
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet... ORPHA:97289
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... ORPHA:411593
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Pancreatic fibrosis, Hepa... OMIM:232220
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi... ORPHA:79474
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... ORPHA:280365
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Xanthomatosis ORPHA:364
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Rabson-Mendenhall Syndrome
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying ... ORPHA:769
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... ORPHA:261222
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... ORPHA:3337
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Dent Disease 2
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:300555
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... ORPHA:411629
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Ano... OMIM:241500
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... ORPHA:79086
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst ORPHA:2668
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circulating... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Parathyroid Carcinoma
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:143
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubuloint... ORPHA:79259
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... OMIM:246450
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... OMIM:601198
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented... OMIM:610475
Seckel Syndrome 10
Skin tags, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:617253
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... ORPHA:251004
Familial Cervical Artery Dissection
Diabetes mellitus, Abnormality of connective tissue, Thin skin, Abnormal circulating lipid concen... ORPHA:36382
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Cryptorchidism, Splenomeg... OMIM:618440
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... ORPHA:199343
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro... ORPHA:97362
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... OMIM:610600
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Xanth... OMIM:151660
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to... OMIM:602722
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Delayed puber... ORPHA:90154
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Low anterior hairline, Dela... OMIM:616033
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast... ORPHA:264580
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Osteopeni... OMIM:619489
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Symptomatic Form Of Hfe-Related Hemochromatosis
Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypog... ORPHA:465508
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir... OMIM:241200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, Fa... OMIM:560000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Low ant... ORPHA:73272
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Tuberous xanthoma, Type II diabetes mellitus, Pancreatitis OMIM:246650
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:99880
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed... OMIM:300554
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Long eyelashes, Failure to... ORPHA:163693
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma OMIM:617343
Multiple Symmetric Lipomatosis
Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp... ORPHA:2398
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou... OMIM:232800
Leprechaunism
Reduced subcutaneous adipose tissue, Facial hypertrichosis, Enlarged ovaries, Hepatomegaly, Insul... ORPHA:508
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El... OMIM:612089
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... OMIM:137920
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... OMIM:613677
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... OMIM:614962
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Hypercholesterolemia, Joint hy... ORPHA:254531
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Osteoporosis... OMIM:615830
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Acquired Partial Lipodystrophy
Glomerulopathy, Lipoatrophy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic stea... ORPHA:79087
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... OMIM:239199
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele... OMIM:613327
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... ORPHA:358
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Donohue Syndrome
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cho... OMIM:246200
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuri... ORPHA:134
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Obesity, Pseudohypo... OMIM:612462
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitar... OMIM:145750
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... OMIM:600740
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Abnormal hair morphology, Sub... ORPHA:2591
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal o... ORPHA:633
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria... OMIM:156400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal Fanconi syndrome, Hepatic steatosis, Hypothyroidism, Glomerulopathy, Multicystic kidney dys... ORPHA:93111
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Nocturia, Enuresis, Hypokalemia, Increased circu... OMIM:263800
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:608594
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Subcutaneous nodule, Weight loss, Hematuria, Neoplasm of the liver ORPHA:69077
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Polyphagia, Overgrowth, Red hair, Hepatic steatosis OMIM:620195
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Gout ORPHA:510
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased ... OMIM:612780
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... OMIM:617575
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Chronic pancreatitis, Hepatocellula... OMIM:232240
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... ORPHA:284426
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Reduced bo... ORPHA:18
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:269700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodystrophy, ... ORPHA:1979
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus, Abnormal circulating... ORPHA:225
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... ORPHA:90153
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Diabetes mellitus, Dorsocervical fat pad, Pa... ORPHA:96253
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... OMIM:612286
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Cryptorchidism, Naevus flamme... ORPHA:2849
Juvenile Paget Disease
Recurrent fractures, Subcutaneous nodule, Cranial hyperostosis, Osteoporosis, Melanocytic nevus, ... ORPHA:2801
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi... ORPHA:534
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Glucose/Galactose Malabsorption
Failure to thrive, Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... ORPHA:97282
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Synophrys, Abnormal renal ... OMIM:182290
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Alopecia, Premature thelarche, Isosexua... ORPHA:90795
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... ORPHA:223
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Polyphagia... OMIM:606407
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice... ORPHA:348
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Pseudopseudohypoparathyroidism
Osteoma cutis, Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hor... ORPHA:79445
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin con... ORPHA:95513
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... OMIM:603233
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Acute pancreatit... ORPHA:20
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... ORPHA:653
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Alopecia, Abnormal hair pattern, Abnormality... ORPHA:2315
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... OMIM:614736
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... OMIM:145001
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures, Skin dimple, ... ORPHA:436
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, ... OMIM:103580
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive, Diabetes insipidus OMIM:304800
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Hypoglycemia, Hypercalcemia, Elevated circulating growth hormone concentration, Pan... OMIM:131100
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:125800
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Anor... OMIM:557000
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... ORPHA:89938
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:29072
Short Syndrome
Joint laxity, Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin res... OMIM:269880
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Arthritis, Poly... ORPHA:3452
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enla... ORPHA:91
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc... OMIM:229600
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Abnormality of the kidney OMIM:615988
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... OMIM:264700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Abnormal repetitive mannerism... OMIM:618347
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi... OMIM:602579
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:276621
Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Renal neoplasm, Increased bone... ORPHA:902
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Craniosynostosis, Puberty and gonadal... ORPHA:525731
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellit... ORPHA:412
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Congenital diaphragmatic hernia, Uni... ORPHA:2260
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... ORPHA:369929
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Joint hypermobility, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Hypo... OMIM:219150
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Overweight, Renovascular hypertension, Type II diabetes mellit... ORPHA:401923
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hepatosplenomegaly, Cholest... OMIM:619858
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased... ORPHA:2985
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... ORPHA:361
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Prem... ORPHA:90791
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Craniosynostosis, Cryptorchidism, Camptodactyly of toe, Umbilical h... OMIM:175700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, F... OMIM:616539
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par... OMIM:617994
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... OMIM:615453
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Mesangial hypercellularity,... ORPHA:329918
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Nephroli... ORPHA:93160
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... ORPHA:84081
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Vesicoureteral ... ORPHA:116
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... ORPHA:289157
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... ORPHA:97280
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa... ORPHA:172
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Fetal pyelectasis, Obesity, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Xanthomatosis, Susceptibility To
Hypercholesterolemia, Xanthomatosis OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Tendon xanthomatosis, Elevated circulating sitosterol concentration OMIM:618666
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur... OMIM:615398
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... OMIM:614455
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... ORPHA:411543
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogon... OMIM:615993
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
H Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Hypertriglyc... ORPHA:168569
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Agitation, Micropenis ORPHA:85282
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, F... ORPHA:75496
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Joint hemorrhage, Hyperuricemia ORPHA:35909
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Failure to thrive, Flexion contracture, Thin skin ORPHA:157965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria OMIM:268315
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contrac... OMIM:214150
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Dysphagia, Abnormal thymus morphology,... ORPHA:589
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Small for gestational age, Hypospadias, Cryptorchidism, Urolithiasis, Gout, ... OMIM:300661
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph... ORPHA:416
Cataract 47
Glycosuria OMIM:612018
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, P... ORPHA:3157
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper... ORPHA:469
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
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Incr... ORPHA:199244
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Hyperuricemia, Dysph... OMIM:300322
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Hypoplastic toenails, K... OMIM:608836
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Hypercalciuria, Reduced bone mineral density, Nephrocal... ORPHA:428
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... OMIM:620366
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, Obesity OMIM:615983
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Osteoma cutis, Decreased response to growth hormone s... ORPHA:79444
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
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
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Obesity, T... ORPHA:2377
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... ORPHA:819
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Hyperuricemia, ... ORPHA:543
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... ORPHA:681
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Hypoalb... OMIM:608104
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Limitation of joint mobility, Nephrotic syndrome, Type I diabetes me... ORPHA:1192
Galactosemia I
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... OMIM:230400
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... ORPHA:94093
Stiff Skin Syndrome
Aplasia/Hypoplasia of the skin, Lipoatrophy, Subcutaneous nodule, Limitation of joint mobility, N... ORPHA:2833
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Hypercholeste... ORPHA:90674
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in... ORPHA:405
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat... ORPHA:3191
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... OMIM:618183
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Cockayne Syndrome
Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypop... ORPHA:191
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Early onset of sexual mat... OMIM:194050
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Cafe-au-lait... OMIM:171420
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Ab... OMIM:616733
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd... OMIM:613630
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa... OMIM:619013
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the ey... ORPHA:261304
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, ... OMIM:619991
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... ORPHA:94089
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Abnormal re... ORPHA:449291
Ddost-Cdg
Osteopenia, Hepatic steatosis, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidi... ORPHA:300536
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... OMIM:610628
Erdheim-Chester Disease
Increased bone mineral density, Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Oste... ORPHA:35687
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Advanced ossification of carpal bo... OMIM:614613
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Refractory Celiac Disease
Elevated hepatic transaminase, Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypoca... ORPHA:398063
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Acrogeria
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Joint hyperflexibility, Thin ... ORPHA:2500
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Temple Syndrome
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... ORPHA:254516
Oculoskeletodental Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the frontal hairline, Hypocalcemia, Enamel hypopl... ORPHA:557003
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu... ORPHA:35710
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, In... OMIM:616541
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Recurrent fractures, Skin nodule, Elevated circulating thyroid-st... OMIM:601812
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Subcutaneous nodule, Bicarbonaturia, Aminoaci... OMIM:309000
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Overweight, Repetitive compul... ORPHA:391372
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... OMIM:617671
Estrogen Resistance
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Self-mutilation... OMIM:619487
Sarcoidosis
Subcutaneous nodule, Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroidism, Hepatomegaly... ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex finge... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex finge... ORPHA:99228
Monosomy X
Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex finge... ORPHA:99226
Turner Syndrome
Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex finge... ORPHA:881
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology,... ORPHA:742
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Hypocal... OMIM:212750
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... OMIM:264350
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Increased cir... ORPHA:90790
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiecta... OMIM:235255
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Reduced bone mineral density, Decreased serum estradiol, Decreased circulating androgen concentra... ORPHA:90796
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phospha... ORPHA:562
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Xanthomatosis, Hepat... ORPHA:275761
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Hypoplastic ... ORPHA:904
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Leptospirosis
Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated s... ORPHA:509
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... OMIM:179800
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Addictive alcohol use, Hypercholesterolemia, Hyperglycemia, Hypothyroidism ORPHA:90065
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Aggressive behavior, Cryptorchidism, Jaundice, Flexion contracture... OMIM:608093
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Aggressive behavior, Synophrys, Compulsive behaviors, Attent... ORPHA:476126
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... ORPHA:98855
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic hypogonadism... OMIM:176270
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... ORPHA:94090
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperactivity, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidi... ORPHA:254346
Wolfram Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Joint stiffness, Nephropathy, Abn... ORPHA:3463
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... OMIM:203400
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Eruptive xanthomas, ... ORPHA:444490
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... ORPHA:3163
Arthrochalasia Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Joint stiffnes... ORPHA:1899
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogeni... OMIM:611555
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck,... OMIM:612350
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic ki... OMIM:166300
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypergonadotropic hyp... OMIM:212065
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal dental enamel morphology, Abnormal circulating calcium-phosphate reg... ORPHA:2238
Silver-Russell Syndrome 2
Thin skin, Neonatal hypoglycemia OMIM:618905
48,Xxyy Syndrome
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... ORPHA:447
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci... OMIM:614376
Microtriplication 11Q24.1
Hyperlipidemia, Synophrys, Limitation of joint mobility, Obesity, Long eyelashes, Bruxism, Thick ... ORPHA:289522
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Reduced bone m... ORPHA:834
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Decreased testicular size, Hypoplasia of penis, Abnormality of the thyroid gla... ORPHA:2234
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98793
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashe... ORPHA:217346
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Joint stiffness ORPHA:1078
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... ORPHA:261476
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177904
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... ORPHA:98863
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth ORPHA:199276
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Dysuria, Elevated circulating C-reactive protein co... ORPHA:49041
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... ORPHA:261483
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... OMIM:146200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node... ORPHA:277
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... ORPHA:98853
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... OMIM:241410
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... ORPHA:263501
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Tubulointerstitial nephritis, Hypoalbuminemia, Hypocalcemia, Hy... ORPHA:37042
Flynn-Aird Syndrome
Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal... ORPHA:2047
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte... OMIM:615952
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos... ORPHA:36913
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility ORPHA:436141
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif... OMIM:259410
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria OMIM:189800
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Joint hyperflexibility, Thin skin, Hernia, Umbilical hernia ORPHA:75497
Silver-Russell Syndrome
Failure to thrive in infancy, Shoulder dimple, Cachexia, Hypospadias, Precocious puberty, Cryptor... ORPHA:813
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insuli... ORPHA:3464
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Osteopenia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabete... ORPHA:536532
Scorpion Envenomation
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Eleva... ORPHA:466677
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Senior-Loken Syndrome 9
Osteopenia, Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, H... OMIM:616629
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Choles... ORPHA:440713
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicou... ORPHA:3455
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Abnormality ... ORPHA:2092
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releasing hormone ... ORPHA:398079
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hyperflexibility, Joint hypermobility, Thin skin, Adrenal hypoplasia ORPHA:230839
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... ORPHA:890
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Diabetes... ORPHA:100
Cednik Syndrome
Nephrotic syndrome, Hypogonadism, Proteinuria ORPHA:66631
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Eleva... OMIM:619127
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Schimke Immunoosseous Dysplasia
Osteopenia, Macule, Renal insufficiency, Small for gestational age, Hypermelanotic macule, Protei... OMIM:242900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Pheochromocytoma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... OMIM:171300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi... ORPHA:79303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morpho... ORPHA:1655
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, Attention deficit hyperactivity diso... OMIM:617364
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microve... OMIM:124000
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A... OMIM:256040
Marshall-Smith Syndrome
Craniosynostosis, Reduced bone mineral density, Increased susceptibility to fractures, Joint hype... ORPHA:561
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Cole Disease
Hypopigmented macule, Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenail d... ORPHA:1660
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hi... ORPHA:1901
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... OMIM:613913
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Inguinal hernia, Diabetes mellitus, Absent gallbladder, Congenital diaphrag... OMIM:600001
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Obesity, Delayed puberty OMIM:301900
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Microvesicular hepatic steatosis, Grade II vesicoureteral reflu... OMIM:619377
Majeed Syndrome
Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Hepatomegaly, Cachexi... ORPHA:77297
Papular Xanthoma
Hyperlipidemia, Skin plaque, Eruptive xanthomas ORPHA:158008
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... ORPHA:99845
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint... OMIM:613658
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... ORPHA:98908
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Congenital hypopar... ORPHA:93324
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Xeroderma Pigmentosum
Macule, Craniofacial hyperostosis, Alopecia, Hypermelanotic macule, Cryptorchidism, Hypopigmented... ORPHA:910
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Obesity, Cholesta... OMIM:615630
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, Nephronophthisis, He... OMIM:266920
Intellectual Developmental Disorder, X-Linked 91
Obesity, Low posterior hairline OMIM:300577
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, Renal hypoplasia, Hypogonadism, Hepatic steatosis, Hydronephrosis OMIM:615996
Papa Syndrome
Proteinuria, Limitation of joint mobility, Skin ulcer, Arthritis, Type I diabetes mellitus ORPHA:69126
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Diabetes mellitus, Lipodystrophy, Highly ... OMIM:270450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Distal renal t... OMIM:611590
Chung-Jansen Syndrome
Joint hypermobility, Impulsivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Attent... OMIM:617991
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Premature adrena... ORPHA:90794
Narcolepsy Type 1
Obesity ORPHA:2073
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre... ORPHA:397596
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Hypermelanotic macule, Abnormality of thyroid physiology, Minimal chan... ORPHA:1830
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... OMIM:615547
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, ... ORPHA:3409
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co... OMIM:609069
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... ORPHA:159
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Pseudohypoparath... OMIM:203330
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Dermoodontodysplasia
Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas... OMIM:201475
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Hypoplasia of the thymus, Failure to thrive, Hypoproteinemia OMIM:603554
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... OMIM:618883
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
X-Linked Agammaglobulinemia
Alopecia, Osteomyelitis, Hypopigmented skin patches, Skin ulcer, Weight loss, Hepatitis, Arthriti... ORPHA:47
Neuhauser Syndrome
Osteopenia, Low anterior hairline, Primary hypothyroidism, Dysphagia, Hypercholesterolemia OMIM:249310
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
11P15.4 Microduplication Syndrome
Synophrys, Obesity, Highly arched eyebrow, Aggressive behavior ORPHA:300305
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro... OMIM:154020
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Truncal obesity, Hypogon... OMIM:300882
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... OMIM:620300
Baralle-Macken Syndrome
Striae distensae, Urinary incontinence, Obesity, Cafe-au-lait spot, Hirsutism OMIM:619255
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev... OMIM:620138
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacar... ORPHA:2774
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... ORPHA:427
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Glass Syndrome
Restlessness, Inguinal hernia, Hyperactivity, Aggressive behavior, Long eyelashes, Thin skin, Nai... OMIM:612313
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu... ORPHA:778
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Papule, Compulsive behaviors, Attention deficit hyperactivity disorder, Thick eyebrow ORPHA:444002
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Nephr... ORPHA:100024
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins... OMIM:209900
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Nephrotic syndrome, Aplasia/Hypoplasia of the eyebrow,... ORPHA:238468
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Hypospadias, Anterior pit... OMIM:151050
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss ORPHA:2494
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Recurrent fractures, Absent ossification of calvaria, Multiple prenata... OMIM:166210
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hyperphosphaturia, Alopecia, Nevus sebaceous, Recurrent fractures, Precocious puberty... OMIM:163200
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Hypospadias, Absent eyel... OMIM:264090
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... OMIM:616878
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Elevated circulating creatine kinase con... OMIM:607426
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Supernumerary nipple, Cr... ORPHA:1812
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Thin skin, Sparse body hair ORPHA:1810
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Bacterial Toxic-Shock Syndrome
Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine... ORPHA:36234
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Oste... OMIM:614438
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Familial Cold Urticaria
Arthritis, Polydipsia ORPHA:47045
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Thin... OMIM:617602
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Osteoporosis, Obesity, Pseudohypoparathyroidism OMIM:612463
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Rapp-Hodgkin Syndrome
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypothyroidism, Hypoalbuminemia, Hepatomegaly OMIM:226300
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypothyroidism, Joint hyperflexibility, Hypercholesterolemia, Abnormal repetitive man... ORPHA:2479
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Joint hypermobility, Oral-pharyngeal dysphagia, Synophrys, Obesity, Long eyelashes, Lipoma, Thick... ORPHA:480907
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Relapsing Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... ORPHA:91547
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Anorexia, Chronic non... ORPHA:97287
Morm Syndrome
Hyperactivity, Abnormality of the kidney, Aggressive behavior, Truncal obesity, Micropenis ORPHA:75858
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou... OMIM:610965
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Craniosynostosis, Cryptorchidism, Obesity, Renal hypoplasia, Radioul... ORPHA:171839
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, H... OMIM:617303
Rafiq Syndrome
Joint laxity, Joint hypermobility, Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Aggressi... OMIM:614202
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... OMIM:120330
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Anonychia, Hypothyroidism, Ge... ORPHA:1563
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Macronodular cirrhosis, Nephrotic syndrome, Mucopolysacch... OMIM:215250
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Atrophic scars, Inguinal hernia, Thin skin OMIM:225320
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... ORPHA:98907
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism,... OMIM:619471
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
De Barsy Syndrome
Osteopenia, Inguinal hernia, Lipodystrophy, Cryptorchidism, Generalized joint laxity, Thin skin, ... ORPHA:2962
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Increased body weight, Compulsive behaviors, Micropenis, Hypotha... ORPHA:398069
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... ORPHA:261229
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Increased susceptibility to fractures, Hyperuricemia, Abnormal cortical bone... ORPHA:2769
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Obesity, Low posterior ha... ORPHA:2183
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti... OMIM:618495
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... ORPHA:746
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Webb-Dattani Syndrome
Neurogenic bladder, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... OMIM:615926
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, O... OMIM:222700
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestationa... ORPHA:2959
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Hypo... OMIM:259700
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C... ORPHA:94065
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarrin... ORPHA:90321
48,Xxxy Syndrome
Decreased testicular size, Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morpholog... ORPHA:96263
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Frontal balding, Ea... ORPHA:3041
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Abdominal obesity,... OMIM:300354
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Osteoporosis, Bladder diverticulum, Disproportionate t... OMIM:225400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Shoulder dimple, Decreased response to growth hormone stimulation test... ORPHA:96182
Lymphangiectasia, Intestinal
Abnormal hair morphology, Neonatal hypoproteinemia OMIM:152800
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Joint laxity, H... ORPHA:821
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Thin skin, Hypocholesterolemia, Sparse hair, Preauricular skin tag, Failure to th... OMIM:244450
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Small for gestational age, Cryptorchidism, Increased circulating gonad... OMIM:300869
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentra... ORPHA:247691
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Proteinuria, Anorexia, Hypersplenism, S... ORPHA:77259
Toxic Epidermal Necrolysis
Macule, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Dysuria, Abnor... ORPHA:537
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Limited elbow... OMIM:614008
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Subcutaneous nodule, Hypoalbum... OMIM:241600
Periventricular Nodular Heterotopia
Joint hypermobility, Thin skin, Hernia ORPHA:98892
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Organic aciduria, Long eyelashes, Joint... OMIM:620191
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Curly hair, Failure to thrive, Slow-growing hair, Craniosynostosis, Highly arch... OMIM:617506
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... OMIM:619147
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hor... OMIM:615873
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis... ORPHA:2323
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... ORPHA:77293
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Castleman Disease
Myelofibrosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundi... ORPHA:160
Bloom Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Small for gestational age, Sparse eyelashe... ORPHA:125
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate album... OMIM:619269
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... OMIM:600785
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Systemic Sclerosis
Renal insufficiency, Alopecia, Proteinuria, Elevated circulating creatine kinase concentration, C... ORPHA:90291
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism, Obesity, Large for gestational age OMIM:617119
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Obesity, Pseudohypoparathyroidism, Renal hyp... ORPHA:464288
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... OMIM:614034
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of the liver, Elevated hepatic iron concent... ORPHA:231222
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Synophrys, Horizontal eyebrow, Obesity, Congenital hypothyroidism ORPHA:352530
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Joint laxity, Thin skin, Striae distensae OMIM:225310
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Inc... OMIM:256550
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Renal agenesis, Frontal balding, Synophrys, Obesity, Facial hirsutism, Increased s... ORPHA:247768
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Alopecia, Hypocalcemia ORPHA:100025
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus ORPHA:31825
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Aplasia cutis congenita over the scalp vertex, Hypoproteinemia OMIM:207731
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Oncogenic Osteomalacia
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p... ORPHA:352540
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... OMIM:613179
Geroderma Osteodysplastica
Recurrent fractures, Osteoporosis, Joint hyperflexibility, Thin skin, Hernia, Abnormal bone ossif... ORPHA:2078
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Overweight, Cryptorchidism, Delayed puberty, Mildly el... ORPHA:486815
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Premature adrenarche, Precocio... ORPHA:739
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Duplicated collecting system, Inguinal hernia, Curly hair, Sparse scalp hair, Join... OMIM:607721
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t... ORPHA:227990
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Obesity, Renal cyst OMIM:605231
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Crackles, Atelectasis, Hyper... ORPHA:2902
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Small for gestational age, Hypoglycemia, Hypospadias, Highly arched e... OMIM:220111
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Elevated circulating crea... OMIM:109130
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Timothy Syndrome
Hypothyroidism, Hypoglycemia, Hypocalcemia OMIM:601005
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Abnormal fingerna... ORPHA:444077
Osteogenesis Imperfecta
Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Recurr... ORPHA:666
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Urinary incontinence, Obesity ORPHA:464282
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Obesity, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction OMIM:604360
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Abnormal hair ... ORPHA:2028
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvar... OMIM:244460
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Hyperechogenic pancreas, Achilles tendon... ORPHA:456312
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... ORPHA:70578
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia OMIM:615501
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypoglycemia, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis, F... OMIM:607143
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Low posterior hairline, Hypogonadism, Abnormal testis morphology ORPHA:2233
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... ORPHA:227982
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... OMIM:211600
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity, Melanocytic nevus OMIM:300471
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, P... ORPHA:363618
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis m... ORPHA:275
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... ORPHA:173
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Alagille Syndrome 1
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h... OMIM:118450
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... OMIM:252160
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Neonatal insulin-dependen... ORPHA:1667
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Decreased urinary urate, Hypouricemia ORPHA:760
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Autoimmunity, Aut... OMIM:614470
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Stage 1 chronic kidney disease, Obesity, Limited shoulde... OMIM:618821
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Osteoporosis, Elevated circulating ... ORPHA:232
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndr... OMIM:619428
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Numerous nevi, Agene... ORPHA:536471
Perrault Syndrome 4
Increased circulating gonadotropin level, Osteoporosis, Obesity, Disproportionate tall stature, H... OMIM:615300
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Nephronophthisis 15
Elevated hepatic transaminase, Obesity, Nephronophthisis OMIM:614845
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, D... OMIM:214100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... OMIM:615508
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Steatorrhea, Increased he... ORPHA:71
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Meier-Gorlin Syndrome 1
Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Hypercon... OMIM:224690
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypogonadism, Obesity, Hypospadias OMIM:615985
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Splenomegaly, Bone cyst, Enlarged lacrimal glands, Hypercalciuria, Weight... OMIM:181000
Cardiac-Valvular Ehlers-Danlos Syndrome
Inguinal hernia, Joint hypermobility, Hypermobility of distal interphalangeal joints, Atrophic sc... ORPHA:230851
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... OMIM:251900
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Papule, Limitation of movem... ORPHA:740
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Sparse hair, Joint laxity, Hepatome... OMIM:218330
Down Syndrome
Joint laxity, Renal hypoplasia/aplasia, Obesity, Type II diabetes mellitus, Sparse hair, Umbilica... ORPHA:870
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint laxity, Inguinal hernia, Hiatus hernia, Generalized joint laxity, Atrophic scars, Thin skin... OMIM:130080
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Spar... OMIM:129900
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Subcutan... ORPHA:2176
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density w... OMIM:136300
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Hyperlipidemia, Subcutaneous nodule, ... ORPHA:324
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli... ORPHA:2237
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... ORPHA:347
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
46,Xy Sex Reversal 4
Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creat... OMIM:154230
Tenorio Syndrome
Osteopenia, Joint laxity, Hypoglycemia, Enuresis, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter, Obesity, Joint hyperflexibility ORPHA:1035
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Synophrys, Widow's peak, Stereotypical hand wringing, Thin skin, Thin eyebrow, Bruxism, Cafe-au-l... OMIM:617804
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... OMIM:274150
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Aggressive behavior, Syn... OMIM:619312
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Self-injuriou... OMIM:600430
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Osteoporosis, Pathologic fracture, Knee flexion contracture, Dysphagia... OMIM:601559
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, Sparse hair, Micropenis, Hydron... OMIM:619185
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, ... OMIM:614231
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism, Thick eyebrow, Cryptorchidism ORPHA:3459
Chromosome 16P13.3 Deletion Syndrome, Proximal
Nevus sebaceous, Abnormality of the kidney, Obesity, Polysplenia, Facial hypertrichosis, Failure ... OMIM:610543
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Fine hair, Premature graying of hair, Increased susceptibility to fract... OMIM:612199
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism,... ORPHA:110
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... ORPHA:99832
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Advanced ossification of carpal bones, Truncal obesity... OMIM:618363
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H... ORPHA:340
Dengue Fever
Hepatomegaly, Hypoproteinemia ORPHA:99828
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Eruptive xan... OMIM:614025
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-rea... OMIM:613011
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... ORPHA:158673
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... ORPHA:156
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal r... ORPHA:2785
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... ORPHA:231625
Becker Muscular Dystrophy
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... ORPHA:98895
Overlap Myositis
Diabetes mellitus, Elevated circulating creatine kinase concentration, Autoimmunity, Antinuclear ... ORPHA:206572
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Anuria, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia, Sept... ORPHA:544482
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Renal neoplasm, Multiple joint contractures, Recurrent fractures, Craniosynostosis, O... ORPHA:536467
Gracile Bone Dysplasia
Failure to thrive, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Decreased skull ossifi... OMIM:602361
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased testicular size, Hypoplasia of ... ORPHA:478
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Weight loss, Abnormal liver parenchyma morphology, Pheoch... ORPHA:1332
Summitt Syndrome
Craniosynostosis, Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Ureteral stenosis, Hypopigmentation of hair, Cryptorchidism, Limitation of joint... ORPHA:2719
Dyskeratosis Congenita
White hair, Premature graying of hair, Sparse hair, Skin vesicle, Macule, Hepatomegaly, Alopecia,... ORPHA:1775
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalem... OMIM:617913
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
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hepatitis, Hema... ORPHA:549
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Holoprosencephaly
Omphalocele, Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, ... ORPHA:2162
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypopigmentation of hair, Hypertriglyceridemia, Incr... ORPHA:167
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... OMIM:615418
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Proteinuria, Sparse eyelashes, Sagittal craniosynostosis, Hypoplastic toenails... OMIM:616901
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large for gestational age, Agg... OMIM:619075
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer... OMIM:619802
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepati... OMIM:619534
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Renal insufficiency, Abnormal dental enamel morphology, ... ORPHA:1031
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nail-Patella Syndrome
Flexion contracture, Knee flexion contracture, Reduced bone mineral density, Nephritis, Abnormali... ORPHA:2614
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Steatorrhea ORPHA:75233
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst... ORPHA:33001
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Reduced bone mineral density OMIM:619322
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent f... ORPHA:355
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Decreased serum creat... OMIM:618885
Zttk Syndrome
Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Craniosynostosis, Sparse eye... OMIM:617140
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Fail... OMIM:219700
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Synophrys, Osteoporosis, Atypical scarring of skin, Bladder divertic... ORPHA:536545
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Cryptorchidism, Generalized joint laxity, Synophrys, Increased body weight, Attentio... ORPHA:589905
Cartilage-Hair Hypoplasia
Hepatomegaly, Sacral dimple, Abnormally ossified vertebrae, Sparse eyebrow, Abnormality of the pa... ORPHA:175
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,... ORPHA:542323
Carpenter Syndrome 1
Omphalocele, Preauricular pit, Sacral dimple, Hydroureter, Sagittal craniosynostosis, Precocious ... OMIM:201000
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contractur... ORPHA:206549
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Myelofibrosis, Splenomegaly, Hepatomegaly OMIM:301078
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow ORPHA:2429
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Hyperactivity, Camptodactyly of finger, Cachexia, Abnormal ... ORPHA:85293
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dys... OMIM:175500
Pde4D Haploinsufficiency Syndrome
Joint laxity, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated c... ORPHA:439822
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Nevus, Decreased serum iron, Skin erosion, Flexion contracture, Delayed pubert... ORPHA:89842
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturi... ORPHA:96149
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Flexion contracture, Obesity, Bruxism, Macroorchidism, Male hypogonadism, Wrist fle... OMIM:300055
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypokalemia, Decreased urinary potassium OMIM:611489
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... OMIM:611881
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Proteinuria, Focal segmenta... ORPHA:550
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cryptorchidism, Truncal obesity, Joint hyperflexibility, Hypogonadism, Spars... ORPHA:127
White-Sutton Syndrome
Duplicated collecting system, Joint laxity, Hyperactivity, Congenital diaphragmatic hernia, Aggre... OMIM:616364
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... OMIM:127000
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... ORPHA:91351
Immunodeficiency 61
Arthritis, Obesity, Attention deficit hyperactivity disorder OMIM:300310
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma... ORPHA:209905
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented... ORPHA:2907
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, Sk... ORPHA:91138
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... OMIM:231550
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... ORPHA:273
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Highly arched e... ORPHA:1001
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropi... ORPHA:453533
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Hypoglycemia, Elevate... OMIM:276700
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Restrictive Dermopathy 1
Ureteral duplication, Limb joint contracture, Hypospadias, Adrenal hypoplasia, Sparse eyelashes, ... OMIM:275210
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia ORPHA:57
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Hiatus ... OMIM:251300
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Eruptive xanthomas ORPHA:140905
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl... ORPHA:261494
Bardet-Biedl Syndrome 21
Overweight, Obesity, Horseshoe kidney, Elevated hepatic transaminase OMIM:617406
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Eruptive xanthomas, Increased circulating chylo... OMIM:207750
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Autoimmunity,... ORPHA:83471
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglo... OMIM:231530
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Thick hair, Joint stiffness, Heparan sulfate excretion in urine, Flexion contracture... ORPHA:505248
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Long eyelashes, ... OMIM:618476
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis OMIM:209010
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... ORPHA:48435
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Proteinuria, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Subcutaneous nodule, Obesity, Arthritis, Hypothyroidism ORPHA:36397
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton... ORPHA:64744
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Aggressive behavior, Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Increased body weig... OMIM:300860
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hypothyroidism, Abnorm... OMIM:243800
Recon Progeroid Syndrome
Joint laxity, Hyperconvex thumb nails, Absent lower eyelashes, Thin skin, Hirsutism OMIM:620370
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertension, Autoimmunity, Hyper... ORPHA:228426
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Elevated circulating creatine k... ORPHA:99826
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Achilles tendon contracture, Elevated circulating creatine kinase concentration... OMIM:607155
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Sitosterolemia 1
Hyperapobetalipoproteinemia, Tuberous xanthoma, Elevated circulating sitosterol concentration, Sp... OMIM:210250
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... OMIM:208500
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Renal Tubular Acidosis Iii
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... OMIM:267200
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Skin ulcer, Melanocytic nevus, Nai... ORPHA:978
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... OMIM:617294
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Dry hair, Small for gesta... OMIM:133540
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Subcutaneous nodule, Hypopigmented skin patches... ORPHA:183
Sotos Syndrome
Joint laxity, Tall stature, Abnormality of the kidney, Aggressive behavior, Sparse eyebrow, Crypt... OMIM:117550
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp... ORPHA:79133
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Luscan-Lumish Syndrome
Aggressive behavior, Advanced ossification of carpal bones, Obesity, Polycystic ovaries, Overgrow... OMIM:616831
Momo Syndrome
Hyperconvex nail, Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowt... ORPHA:2563
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, H... OMIM:605309
Diaphanospondylodysostosis
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... OMIM:608022
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Synophrys, Hypercalciuria, Nephrocalcinosis, Renal dysplasia, Joint hypermobility OMIM:300990
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Impulsivity, Hypophosphaturia, Abnormality of hair texture, Aggressive ... ORPHA:73223
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, Nail dystrophy, Small nail, Hypercholesterolemia, Decreased te... OMIM:610644
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Widow's peak, Umbilical hernia ORPHA:2143
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone ... OMIM:259050
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Wagr Syndrome
Displacement of the urethral meatus, Obesity, Cryptorchidism ORPHA:893
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow ORPHA:171829
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... OMIM:204690
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase ... ORPHA:158684
Acute Monoblastic/Monocytic Leukemia
Anorexia, Subcutaneous nodule, Oliguria, Central hypothyroidism, Weight loss ORPHA:514
Tatton-Brown-Rahman Syndrome
Joint hypermobility, Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stature, Um... ORPHA:404443
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Thin skin, Finger joint h... OMIM:166200
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect... ORPHA:79128
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged t... OMIM:616005
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesi... OMIM:300957
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Cranial hyper... ORPHA:457240
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, Thin skin OMIM:201170
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... OMIM:619685
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Joint hypermobility, Obesity, Craniosynostosis, Aggressive behavior OMIM:619056
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Distal symphalangism, Hypospadias, Precocious puberty, Truncal obesity, Type I... OMIM:210720
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S... OMIM:617730
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Abnormal repetitive manneris... OMIM:301066
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Alopecia, Abnormal blood ion concentration, Oliguria, Hypophos... ORPHA:31824
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Addictive alcohol use, Elevated circulating C-reactive protein concentration, ... ORPHA:36238
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Anorexia, Ele... ORPHA:91500
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abnorma... ORPHA:97214
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... ORPHA:3077
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Hypospadias, Large for gestational age, Cryptorchidism, Hypopigmented ... ORPHA:457485
Man1B1-Cdg
Long eyebrows, Abnormal position of hair whorl, Sparse eyebrow, Truncal obesity, Long eyelashes, ... ORPHA:397941
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... OMIM:612469
Atelis Syndrome 2
Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... OMIM:620185
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dermal atrophy, Thi... OMIM:103285
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Arterial Tortuosity Syndrome
Joint laxity, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contractur... OMIM:208050
Kosaki Overgrowth Syndrome
Xanthelasma, Overgrowth, Thin skin, Tall stature OMIM:616592
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity, Melanocytic nevus ORPHA:85280
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Eruptive xanthomas, Jaundice, Hepatosplenomegaly, Lactescent serum,... OMIM:238600
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Dry hair, Proteinuria,... OMIM:216400
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... ORPHA:90038
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Carpenter Syndrome
Craniosynostosis, Cryptorchidism, Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... OMIM:188400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,... ORPHA:920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:619503
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Preauricular pit, Hepatomegaly, Renal insufficiency, Insulin-resistant diabetes mellitus, Osteopo... OMIM:226980
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Long eyelashes, Obesity, Tall stature OMIM:618089
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Abnormal repetitive mannerisms, Collectionism, Hyperactivity, Hy... ORPHA:96121
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Synophrys, Truncal obesity, Bruxism, Recurrent hand flapping OMIM:613192
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Webbed neck OMIM:603585
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Craniosynostosis, Hiatus hernia, Joint hyperflexibility, Thin skin ORPHA:3342
Double Outlet Right Ventricle
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypocalcemia ORPHA:3426
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Hypothyroidism, Hypoparathyroidism... ORPHA:567
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, S... ORPHA:90051
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Inguinal hernia, Femoral hernia, Renal insufficiency, Highly arched eyebrow,... ORPHA:96147
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t... ORPHA:412035
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... OMIM:277460
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... OMIM:259720
Clark-Baraitser syndrome
Macroorchidism, Joint laxity, Obesity, Tall stature OMIM:300602
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema, Weight loss ORPHA:703
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair ORPHA:79476
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormality of the upper urinary tract, H... ORPHA:1807
Kleefstra Syndrome 1
Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Abnormal renal morphology, Tracheobr... OMIM:610253
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Attenti... ORPHA:261197
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Joint hypermobility, Overweight, Widow's peak, Obesity, Stere... OMIM:619229
Ring Chromosome Y Syndrome
Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptorchidism, Obesity, Perineal hypospadi... ORPHA:261529
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis,... ORPHA:93552
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Flexion contracture, Osteolysis, Skin ulcer, Oliguria, Arthritis, Dysphagia ORPHA:220393
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Abnormal temper ta... ORPHA:163681
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Arthritis ORPHA:36412
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Attention d... ORPHA:284180
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Synophrys, Tics, Compulsive behaviors, Micropenis, Hepatic steatosis, Abnormal repetitive manneri... OMIM:619475
Ohdo Syndrome
Sparse eyebrow, Cryptorchidism, Proteinuria, Joint laxity OMIM:249620
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Small for gestational age, Skin rash, Autoimmunity, Abnormality of... ORPHA:69665
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Obesity, Enuresis, Dysphagia, Decreased body weight ORPHA:589821
Wilson Disease
Acute hepatic failure, Hepatomegaly, Acute hepatitis, Elevated hepatic transaminase, Aggressive b... ORPHA:905
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... OMIM:619525
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... OMIM:308940
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Retinitis Pigmentosa 51
Obesity, Abnormality of the kidney OMIM:613464
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Urethral stricture, Flexion contracture, Urinary bladder sphincter dysfunction, Osteo... ORPHA:79408
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ab... ORPHA:2750
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Highly arched eyebrow, Obesity, Overgrowth, Tracheoma... OMIM:620155
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis OMIM:603776
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Immunodeficiency 22
Failure to thrive, Pericarditis, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory trac... OMIM:615758
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Abnormal toenail m... ORPHA:89843
Chops Syndrome
Curly hair, Thick hair, Tracheomalacia, Cryptorchidism, Synophrys, Splenomegaly, Obesity, Horsesh... OMIM:616368
Desbuquois Dysplasia 1
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Obesity, Advan... OMIM:251450
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormal fingernail morphology, Camptodactyly of finger, Hypoplastic toenail... ORPHA:3138
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hepat... ORPHA:1855
Vascular Ehlers-Danlos Syndrome
Osteoarthritis, Subcutaneous nodule, Macule, Alopecia, Hypospadias, Abnormal eyelash morphology, ... ORPHA:286
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Hyperactivity, Abnormal eating behavi... ORPHA:98794
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia OMIM:600151
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis ORPHA:182050
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Urinary incontinence, Mildly elevated creatine kinase, Large for gestational age ORPHA:169189
Pycnodysostosis
Ridged nail, Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral d... ORPHA:763
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Lip ... ORPHA:2322
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Abnormality of bone mineral density, C... ORPHA:1114
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... OMIM:194380
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Rothmund-Thomson Syndrome
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of the skin, Smal... ORPHA:2909
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Sparse body hair, Aplasia cutis conge... ORPHA:79402
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Long eyelashes, Obesity, Neonatal hypoglycemia OMIM:608624
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal ... ORPHA:221008
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypopigmented skin patches, Joint hyperflexibility ORPHA:2715
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis OMIM:134610
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... ORPHA:2495
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ... ORPHA:79404
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Abnormality of the kidney, Tracheomalacia, Large for gestational age, Precocious... ORPHA:261652
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low anteri... ORPHA:193
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Hiatus hernia, Precocious puberty, Cryptorchidism, Reduced bone mineral density, Nai... OMIM:616682
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocal... ORPHA:93325
Carney Complex
Atypical nevi in non-sun exposed areas, Hepatocellular carcinoma, Increased body weight, Thyroid ... ORPHA:1359
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Synophrys, Renal cyst, Vesicoureteral reflux, Hy... OMIM:122470
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azot... OMIM:619321
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis, Increased su... ORPHA:77261
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Synophrys, Obesity, Fine hair, Long eyelashes, Overgrowth OMIM:620250
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Stiff neck, Elevated circulating C-reactive p... ORPHA:319213
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Tarsal synostosis, Cryptorchidism, Renal hypoplasia ORPHA:1307
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Webbed neck, Prea... OMIM:617478
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Obesity, Enuresis nocturna, Attention deficit hyperactivity disorder, Recurr... OMIM:619680
Laurence-Moon Syndrome
Micropenis, Obesity OMIM:245800
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... ORPHA:251393
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Hirsutism OMIM:184700
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Abnormality of the subungual region, Atrophic scars, Abnormality of the urinary sys... ORPHA:79411
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Delayed puberty, Lipiduria OMIM:301500
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... ORPHA:90363
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... ORPHA:411511
Thalidomide Embryopathy
Radial club hand, Insulin resistance ORPHA:3312
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
White-Sutton Syndrome
Ventral hernia, Duplicated collecting system, Inguinal hernia, Joint laxity, Hyperactivity, Conge... ORPHA:468678
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased... ORPHA:177907
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Joint stiffness, Subcutaneous nodule, Atypical ... ORPHA:1366
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ... OMIM:146255
White-Kernohan Syndrome
Joint laxity, Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Long eyela... OMIM:619426
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Joint hypermobi... OMIM:216550
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Aplasia/Hypoplasia of the skin, Hypoplasia of penis, Camptodactyly of finger, Ne... ORPHA:2990
45,X/46,Xy Mixed Gonadal Dysgenesis
Bilateral cryptorchidism, Epispadias, Micropenis, Ovarian serous cystadenoma, Hypothyroidism, Pen... ORPHA:1772
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Alopecia, Scarring, Craniosynostosis, Atrophic scars, ... ORPHA:79396
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Peritonitis, Subcutaneous nodule, Oliguria, Skin ulcer, Hema... ORPHA:727
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia OMIM:273395
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... OMIM:260370
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Premature graying... ORPHA:79477
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:136680
Even-Plus Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Renal hypoplasia, Sparse ha... OMIM:616854
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Stiff neck, Proteinuria, Elevated circulating creatine kinase c... ORPHA:99827
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Obesity ORPHA:174
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Aggressive behavior, Cryptorchidism, Hypocalcemia, Umbilical... OMIM:192430
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp... ORPHA:1018
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund... OMIM:300908
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... ORPHA:1606
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... OMIM:269200
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ... ORPHA:423
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226700
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Umbilical hernia,... OMIM:300519
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Osteoarthritis, Osteolysis, Skin ulcer, Dystro... ORPHA:1657
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Osteolysis, Osteoarthritis, Limi... ORPHA:285
Galloway-Mowat Syndrome
Proteinuria, Camptodactyly of finger, Hiatus hernia, Nephrotic syndrome, Nephropathy ORPHA:2065
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb... ORPHA:171
Desmosterolosis
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Renal agenesis, Renal hypoplasia/... ORPHA:35107
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Absent eyebrow, Absent eyelashes, Thin skin, Hypoplastic nipples, Ca... OMIM:200110
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesi... OMIM:301039
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Cryptorchidism, Hypocal... ORPHA:163979
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Elevated hepatic transaminase, Cholangitis, Splenomegaly, Skin nodule, Hepatosplen... ORPHA:3260
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... OMIM:614748
Adnp Syndrome
Joint laxity, Sparse scalp hair, Recurrent urinary tract infections, Inguinal hernia, Urinary inc... ORPHA:404448
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contracture, Obsessive-comp... ORPHA:500055
African Trypanosomiasis
Hepatomegaly, Pericarditis, Aggressive behavior, Abnormality of the endocrine system, Keratitis, ... ORPHA:3385
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Hypopigmented skin patches, Fine hair, Truncal obesity, Joint hyperflexibilit... ORPHA:2637
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Enuresis, Compul... ORPHA:369950
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Synophrys, Obesity, Compulsive behaviors, Thick eyebrow OMIM:618443
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Sparse axillary hair, Splenomegaly, Ho... ORPHA:2136
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Attention def... ORPHA:251071
Nail-Patella Syndrome
Ridged nail, Renal insufficiency, Proteinuria, Glomerulonephritis, Concave nail, Hematuria, Nephr... OMIM:161200
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule morphology ORPHA:188
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, R... ORPHA:667
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Occipital Horn Syndrome
Osteopenia, Coarse hair, Femoral hernia, Scarring, Osteomalacia, Hiatus hernia, Osteoporosis, Hep... ORPHA:198
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Nail dystrophy, Sparse h... ORPHA:85448
Aymé-Gripp Syndrome
Sparse scalp hair, Inguinal hernia, Proteinuria, Craniosynostosis, Congenital diaphragmatic herni... ORPHA:1272
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnor... ORPHA:2658
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Loeys-Dietz Syndrome
Striae distensae, Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Joint hyp... ORPHA:60030
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Distal Triplication 15Q
Abnormality of the kidney, Craniosynostosis, Large for gestational age, Birth length greater than... ORPHA:314588
X-Linked Intellectual Disability, Stevenson Type
Thick eyebrow, Obesity, Tall stature ORPHA:85325
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Aminoaciduria, Small nail, Umbilical hernia, Failure to thrive OMIM:614520
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umb... OMIM:222448
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hepatic arteriovenous malformation, Multiple lipomas, Extrahepatic port... ORPHA:2929
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Immunoglobulin A Vasculitis
Macule, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Orchitis, Skin ulcer, Hematur... ORPHA:761
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Micronodular cirrhosis, Proteinuria, Elevated hepatic transaminase OMIM:192315
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Sacral dimple, Inguinal hernia, Vertebral fusion, Decrea... OMIM:213980
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thick eyebrow, Aggressive behavior, Synophrys, Obesity, Truncal obesity, Self-injurious behavior,... ORPHA:466950
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Alopecia, Osteomalacia, Abnormality of th... ORPHA:2636
Adams-Oliver Syndrome
Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Aplas... ORPHA:974
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Mosaic Trisomy 9
Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Limitation of joint mobil... ORPHA:99776
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Delayed ossification of carpal bones, Obesity OMIM:618395
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Increased body weight, Hemoglobinuria, Acute kidney i... ORPHA:244242
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Vesicouret... OMIM:618653
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Rothmund-Thomson Syndrome Type 2
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal ... ORPHA:221016
Orofaciodigital Syndrome I
Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kid... OMIM:311200
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Malakoplakia
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Subcutaneous nodule, Skin ulcer, Ur... ORPHA:556
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Poikiloderma With Neutropenia
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Sparse eyebrow... OMIM:604173
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia ORPHA:31150
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggres... ORPHA:353281
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Self-injurious behavior, ... OMIM:616078
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... OMIM:268400
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Male uret... OMIM:613406
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contract... ORPHA:2671
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Hepati... OMIM:180849
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Abnormality of the thyroid gland, Re... ORPHA:449432
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Fair hair, Obesity OMIM:105830
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Osteomyelitis, Glomerulonephritis, Hemolytic-uremic syndrome,... ORPHA:2968
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia,... OMIM:620330
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Thrombocytopenia 6
Myelofibrosis, Osteoporosis OMIM:616937
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hydronephrosis OMIM:300712
Shox-Related Short Stature
Obesity ORPHA:314795
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Achondroplasia
Knee joint hypermobility, Limited elbow extension, Obesity, Hip joint hypermobility ORPHA:15
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Essential Thrombocythemia
Myelofibrosis, Splenomegaly ORPHA:3318
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis OMIM:615989
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Adrenal insufficiency, Decrea... OMIM:617053
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Displacement of the urethral meatus... ORPHA:1556
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop... ORPHA:79078
Eec Syndrome
Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal dental enamel morphology, Decreased respons... ORPHA:1896
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Abnorm... ORPHA:1782
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ... OMIM:618175
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Abnormal fingernail morph... ORPHA:79500
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... OMIM:150400
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... OMIM:267000
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231226
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma ORPHA:139411
Monosomy 22Q13.3
Renal dysplasia, Sacral dimple, Hyperactivity, Hypoplastic toenails, Hair-pulling, Obesity, Long ... ORPHA:48652
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... ORPHA:1647
Xylt1-Cdg
Joint laxity, Hepatomegaly, Synophrys, Truncal obesity, Hirsutism ORPHA:370930
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity, Finger joint hypermobility OMIM:618493
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... ORPHA:1787
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly OMIM:617441
Relapsing Polychondritis
Macule, Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Limitation of joint mobility,... ORPHA:728
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Recurrent urinary tract infections, Obesity, Pseudohypoparathyroidism, Renal hypop... OMIM:617157
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Increased body weight, Erythematous plaque, Skin vesicle, Erythematous papule,... ORPHA:64745
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... ORPHA:257
Myelofibrosis
Myelofibrosis, Splenomegaly OMIM:254450
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Proteinuria, Multiple bladder diverticula ORPHA:2728
Familial Mediterranean Fever
Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Nephroca... ORPHA:342
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Failure to thrive in infancy, Adrenal calcification, Osteomalacia, Hepatic cal... ORPHA:51608
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow, Nevus OMIM:620072
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Decreased liver function OMIM:602199
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Cranial hyp... OMIM:601345
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Synophrys, Obesity, Self-injurious behavior, Pelvic kidney, Attention defici... ORPHA:466943
Lassa Fever
Jaundice, Oliguria, Dysphagia ORPHA:99824
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity, Craniosynostosis ORPHA:251038
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly OMIM:139090
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Splenomegaly ORPHA:86843
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Compulsiv... ORPHA:199
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Microscopic hematuria ORPHA:86818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Joint laxity, Hypera... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Joint laxity, Hypera... ORPHA:353277
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Momo Syndrome
Overgrowth, Obesity, Hyperconvex nail OMIM:157980
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss, Pan... ORPHA:33577
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Knee osteoarthritis, Vagina... ORPHA:2035
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Spl... OMIM:619381
Charge Syndrome
Omphalocele, Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:214800
Desbuquois Dysplasia 2
Joint laxity, Truncal obesity, Synophrys, Advanced ossification of carpal bones OMIM:615777
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa... ORPHA:2108
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231214
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis OMIM:616604
Isotretinoin-Like Syndrome
Preauricular skin tag, Inguinal hernia, Hypocalcemia ORPHA:2306
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Rickets, Osteoporosis, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sparse axillary hair... OMIM:181450
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis OMIM:187900
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hepatitis, Onyc... ORPHA:525
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Renal steatosis, Increased LDL cholesterol concentration, X... ORPHA:391665
Hallermann-Streiff Syndrome
Sparse scalp hair, Hyperactivity, Small for gestational age, Sparse eyelashes, Tracheomalacia, Sp... OMIM:234100
Curry-Jones Syndrome
Generalized hirsutism, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Craniosynostosis ORPHA:1553
Carpenter Syndrome 2
Craniosynostosis, Highly arched eyebrow, Sparse eyebrow, Supernumerary nipple, Bilateral cryptorc... OMIM:614976
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Camptodactyly of finger, Ectopic kidney, Aggressive behavior, Cryptorchidism, Synoph... OMIM:607872
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive ... ORPHA:70591
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Myhre Syndrome
Vertebral fusion, Small for gestational age, Joint stiffness, Cryptorchidism, Limitation of joint... OMIM:139210
Kawasaki Disease
Abnormality of nail color, Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Arthritis, Cholecyst... ORPHA:2331
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of fing... ORPHA:1662
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Osteoporosis, Nail pits, Hepatic necrosis, Premature graying of hair, Derm... OMIM:127550
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Arthritis ORPHA:536
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail ORPHA:384
6Q Terminal Deletion Syndrome
Joint laxity, Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Failu... ORPHA:75857
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Joint hypermobility, Oral-pharyngeal dysphagia, Synophrys, Attention d... OMIM:300966
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormality o... ORPHA:3339
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Dysphagia ORPHA:2822
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Obesity, Abnormality of the nail OMIM:250420
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Zellweger Syndrome
Cryptorchidism, Primary adrenal insufficiency ORPHA:912
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation,... ORPHA:293948
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... ORPHA:1231
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Renal hy... OMIM:181270
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Dermal atrophy, ... ORPHA:69735
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Cryptorchidism, Ureth... OMIM:305000
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig... ORPHA:3322
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity ORPHA:319675
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Kindler Epidermolysis Bullosa
Urethral stricture, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enam... ORPHA:2908
Malignant Atrophic Papulosis
Peritonitis, Weight loss, Papule, Dermal atrophy, Abnormality of the lower urinary tract ORPHA:679
Retinitis Pigmentosa 74
Abnormal renal morphology, Obesity OMIM:616562
Adams-Oliver Syndrome 5
Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Portal vein thrombosis, Hypersple... OMIM:616028
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal d... ORPHA:2556
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Hypospadias, Cryptorchidism, Paroxysmal bursts of laughter, Obesity, Renal hypopla... OMIM:309580
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Dermatomyositis
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Skin ulcer, Weight loss, Arthritis, Cellu... ORPHA:221
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Trichiasis, Anorexia, Oral-pha... ORPHA:95455
Branchiooculofacial Syndrome
Renal cyst, Postauricular pit, Premature graying of hair, Sparse hair, Ectopic thymus tissue, Pre... OMIM:113620
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Absent fingerna... OMIM:305600
Oculoectodermal Syndrome
Hyperactivity, Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Pineal cyst, Preau... OMIM:600268
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Joint laxity, Highly arched eyebrow, Frontal balding, Synophrys, Truncal obesity, Self-injurious ... OMIM:612474
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
D-Bifunctional Protein Deficiency
Bile duct proliferation, Primary adrenal insufficiency OMIM:261515
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonychia, Alopecia u... OMIM:609638
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Camptodactyly of 2nd-5th finger... OMIM:601803
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Defective production of NFKB1-dependent cytokines... OMIM:612132
Barber-Say Syndrome
Absent nipple, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low anterior hair... OMIM:209885
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C... ORPHA:363958
Pallister-Hall Syndrome
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... ORPHA:672
Microphthalmia, Syndromic 2
Cryptorchidism, Hypothyroidism, Adrenal insufficiency OMIM:300166
Kindler Syndrome
Ridged nail, Phimosis, Urethral stenosis, Spotty hypopigmentation, Dermal atrophy, Dysphagia, Dif... OMIM:173650
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Baller-Gerold Syndrome
Abnormality of the kidney, Craniosynostosis, Sagittal craniosynostosis, Limited elbow movement, A... OMIM:218600
Orofaciodigital Syndrome Type 4
Monorchism, Primary adrenal insufficiency, Decreased testicular size, Absent testis ORPHA:2753
Acute Liver Failure
Adrenal insufficiency ORPHA:90062
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder ORPHA:98784

Histopathology

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

There is no histopathology data for Crh

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 Crh.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Corticotropin releasing hormone receptor 2 exacerbates chronic cardiac dysfunction. The Journal of experimental medicine (May 2017) Crhr2tm1c(KOMP)Wtsi Crhr2tm1a(KOMP)Wtsi PMC5502432

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
Crhtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Crhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Crhtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Crhtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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