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Gene: Gcgr MGI:99572

Gene Summary

Name:

glucagon receptor

Synonyms:

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased bone mineral content	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.03×10^-05
improved glucose tolerance	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.71×10^-14
increased mean corpuscular volume	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.21×10^-07
increased lean body mass	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.96×10^-10
male infertility	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
female infertility	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating calcium level	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.61×10^-05
decreased circulating insulin level	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.15×10^-05
decreased mean corpuscular hemoglobin concentration	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.03×10^-06
decreased fasting circulating glucose level	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.64×10^-05
abnormal kidney morphology	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal bone structure	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.73×10^-06
increased circulating cholesterol level	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.28×10^-06
increased kidney weight	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.78×10^-15
enlarged kidney	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased blood urea nitrogen level	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.24×10^-09
decreased total body fat amount	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.50×10^-09
increased startle reflex	Gcgr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.06×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Epididymis	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	0.0% (0 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

LacZ Images Section

3 Images

View images

Human diseases caused by Gcgr mutations

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

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

Human diseases associated with Gcgr (2 diseases)
Human diseases predicted to be associated with Gcgr (1048 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mahvash Disease		Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
Gcgr-Related Hyperglucagonemia		Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b...	ORPHA:438274

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

Disease	Matching phenotypes	Source
Mahvash Disease	Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b...	ORPHA:438274
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer	ORPHA:145
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Familial Melanoma	Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o...	ORPHA:618
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo...	OMIM:615703
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Papillary renal cel...	OMIM:145001
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ...	ORPHA:2668
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H...	OMIM:232700
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th...	OMIM:617872
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Familial Colorectal Cancer Type X	Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc...	ORPHA:440437
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Decreased body weight, Hypoglycemia, Delayed puberty	ORPHA:314811
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob...	ORPHA:1333
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Reduced circulating gr...	OMIM:262400
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi...	ORPHA:276152
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
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
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Multiple joint contractures, H...	ORPHA:2959
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os...	ORPHA:232
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Gardner Syndrome	Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97278
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Peutz-Jeghers Syndrome	Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach ca...	ORPHA:2869
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline...	ORPHA:276580
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria...	ORPHA:370348
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu...	OMIM:300604
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Insulinoma Tumor Suppressor Gene Locus	Insulinoma	OMIM:606960
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ...	ORPHA:324575
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone st...	OMIM:614732
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia	ORPHA:2123
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca...	ORPHA:251004
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov...	OMIM:614350
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c...	ORPHA:276608
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Genital neo...	ORPHA:2126
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp...	ORPHA:199299
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In...	OMIM:608600
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Elevated circu...	ORPHA:97280
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis	OMIM:620357
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adreno...	OMIM:130650
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal...	ORPHA:79237
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te...	OMIM:262700
Pancreatic Agenesis 2	Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla...	OMIM:615935
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia	OMIM:606528
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet...	ORPHA:97289
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con...	ORPHA:231222
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Anemia, Thrombocytopenia	ORPHA:69077
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal...	ORPHA:528
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc...	OMIM:260370
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g...	OMIM:175200
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Os...	ORPHA:2169
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce...	ORPHA:276556
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h...	ORPHA:143
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp...	OMIM:241500
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai...	OMIM:239199
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, R...	ORPHA:95409
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteopo...	ORPHA:77296
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Diabetes mellitus, Microcytic ane...	ORPHA:168569
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi...	ORPHA:1359
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, High, narrow palate, Abnormal panc...	ORPHA:2849
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Hypercalcemia, Parathormone-independent increased renal tubula...	OMIM:600740
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Hypophosphatasia	Anemia, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis	ORPHA:436
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Xanthelas...	OMIM:232200
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar...	ORPHA:97279
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h...	ORPHA:99880
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Ele...	ORPHA:94080
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Dyskeratosis Congenita	White hair, Hyperhidrosis, Premature graying of hair, Neoplasm, Sparse hair, Hepatomegaly, Alopec...	ORPHA:1775
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis,...	ORPHA:79259
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Portal f...	ORPHA:369
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithia...	OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Aminoaciduria,...	OMIM:619386
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contr...	ORPHA:456312
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:79240
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to thrive	ORPHA:172
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Hypothyroidism, Reticulocytopenia, Anisopoikilocyto...	ORPHA:300298
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Cryptorchid...	OMIM:618440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste...	ORPHA:2470
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O...	OMIM:300148
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated ...	OMIM:608836
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Tremor, Hemolytic-uremic syndrome, Schistocytosis, Elevated circula...	OMIM:274150
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El...	OMIM:612089
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid...	OMIM:614736
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Nocturia, Increased blood urea nitrogen, Retrograde ...	OMIM:223360
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H...	OMIM:232400
Fibrous Dysplasia Of Bone	Thin bony cortex, Diabetes mellitus, Hyperthyroidism, Osteomalacia, Hypercalcemia, Testicular neo...	ORPHA:249
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hepatic steatosis	OMIM:610717
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos...	OMIM:248370
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail...	OMIM:246200
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent...	OMIM:610947
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Horseshoe kidney, Increased mean corpuscular volume,...	OMIM:612562
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of end...	ORPHA:79230
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Hypoparathyroidism, Hypercalcemia, Hypercalciuria...	OMIM:156400
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic...	OMIM:616033
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet...	OMIM:276700
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop...	OMIM:613839
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Dysmenorrhea, Increased intraabdominal fat, Hepatic stea...	ORPHA:280365
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Enamel hypoplasia, Hypocalcemia	ORPHA:557003
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas...	ORPHA:263455
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia	ORPHA:35
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormali...	ORPHA:29073
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade...	ORPHA:99889
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor...	OMIM:185000
Adamantinoma	Hypercalcemia	ORPHA:55881
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Obesity, Pseudohypo...	OMIM:612462
Glucocorticoid Resistance, Generalized	Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor...	OMIM:615962
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Failure to thrive, ...	OMIM:619048
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Parathormone-independent in...	ORPHA:405
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn...	ORPHA:2239
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ...	ORPHA:633
Spermatogenic Failure 17	Male infertility	OMIM:617214
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian...	OMIM:261550
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cryptorchidism, Reduced ...	OMIM:617052
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:276621
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Glucose intolerance, Splenomegaly	ORPHA:75563
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Hyperhidrosis, Glucose intoleran...	ORPHA:358
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Incr...	OMIM:600649
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith...	OMIM:606407
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Monosomy 13Q34	Metrorrhagia, Hypercalcemia, Insulin resistance, Fetal pyelectasis, Obesity	ORPHA:96168
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly, Anemia of inadequ...	ORPHA:231214
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Abnormality...	ORPHA:210110
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Bone cyst, Osteolysis, Nephrolithiasis, Abnormal adipose tissu...	ORPHA:93160
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr...	OMIM:609628
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites	ORPHA:890
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:29072
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp...	OMIM:146200
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c...	OMIM:131100
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo...	ORPHA:6
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Nephrotic syndr...	OMIM:617303
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function	OMIM:246900
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia, Hepatomegaly	ORPHA:100025
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98797
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ...	ORPHA:3085
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Decreased testicular size	OMIM:614962
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:608594
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir...	ORPHA:1227
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu...	OMIM:615160
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Hydroxyprolinuria	OMIM:602080
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:269700
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos...	ORPHA:36913
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin resistance, Lymphoma, Insulin-resistant di...	ORPHA:79086
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem...	OMIM:616113
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemia, Hypoc...	OMIM:212750
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight	ORPHA:231140
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia	ORPHA:48431
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen...	ORPHA:508
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Failure to thrive, Hypoglycemia, Cryptorchidism	OMIM:618958
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab...	ORPHA:791
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega...	OMIM:610199
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia	OMIM:222730
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Protein-losing ent...	ORPHA:79319
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Apl...	ORPHA:93111
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Failur...	ORPHA:2929
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt...	ORPHA:261529
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,...	ORPHA:95496
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperam...	ORPHA:2394
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarring, Proteinuria, Tremor, Cryptor...	ORPHA:90321
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Jaundice, Recurrent pan...	ORPHA:676
Kaposiform Lymphangiomatosis	Metrorrhagia, Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, M...	ORPHA:464329
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrhosis	OMIM:613313
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, High...	ORPHA:556955
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype...	OMIM:618120
Yellow Fever	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Pancreatic hyp...	ORPHA:99829
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Hyperam...	ORPHA:42
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Adrenal calcificatio...	OMIM:278000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
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
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Diabetes mellitus, Pancreatic aplasia	ORPHA:261265
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse bon...	OMIM:264700
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Small for gestational...	ORPHA:124
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S...	OMIM:259700
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, I...	OMIM:154230
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test...	ORPHA:94089
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolera...	ORPHA:2088
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu...	ORPHA:247598
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ...	ORPHA:90791
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Hypophosp...	OMIM:616026
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ...	ORPHA:90003
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:617950
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno...	ORPHA:330015
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension	ORPHA:401923
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas...	OMIM:615363
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology, Increased body...	OMIM:182290
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V...	ORPHA:116
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J...	OMIM:617049
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure	OMIM:616483
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur...	ORPHA:289157
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Congenital hypopar...	ORPHA:93324
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, R...	ORPHA:412
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Hyperparathyroidism, Unilateral renal agenesis, Subperiosteal bone f...	OMIM:618188
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Short Stature, Dauber-Argente Type	Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio...	OMIM:619489
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hyperglycinemia, Neonatal death, Failure to thrive, Hypertaurinemia	OMIM:245400
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff...	OMIM:617575
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hyperglycinemia, Failure to thrive, ...	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine...	OMIM:618835
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Small for gestational age, Delayed pubert...	ORPHA:391408
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine...	OMIM:618839
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati...	OMIM:607765
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L...	OMIM:127550
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Villous atrophy, Steatorrhea, Hepatic fibrosis, Protein-losing e...	OMIM:602579
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ...	ORPHA:90790
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal dental enamel morphology, Abnormal circulating calcium-phosphate reg...	ORPHA:2238
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Elevated urinary catecholami...	ORPHA:653
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Decreased skull ossification, Calvar...	OMIM:244460
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Hypoglycemia, Dysmenorrhea, Small for gestational age, Cryptorchidism, Hypothyro...	ORPHA:397590
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul...	OMIM:618500
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of secondary se...	ORPHA:785
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Maple Syrup Urine Disease	Pancreatitis, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevate...	OMIM:248600
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Urinary incontinence, Failure to thrive, Hypercalcemia	ORPHA:476126
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Hepatosplenomegaly, Anemia,...	ORPHA:505248
Castleman Disease	Myelofibrosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight...	ORPHA:160
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Subcutaneous os...	OMIM:103580
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive	OMIM:614702
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Conge...	ORPHA:2255
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Isochromosomy Yq	Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size	ORPHA:98798
Tenorio Syndrome	Osteopenia, Enuresis, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t...	OMIM:251000
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia	ORPHA:2158
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Generalized osteosclerosis, Hypocalcemia, Anemia	ORPHA:53
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Decreased cir...	ORPHA:90674
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc...	OMIM:105650
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neon...	OMIM:619046
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,...	OMIM:600081
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Microvesicular hepatic steatosi...	OMIM:212140
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
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy...	OMIM:203800
Smith-Kingsmore Syndrome	Large for gestational age, Umbilical hernia, Hypoglycemia, Cryptorchidism	OMIM:616638
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Glycosuria, Neonatal death, Elev...	OMIM:231680
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,...	ORPHA:819
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly	OMIM:613977
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum...	ORPHA:37042
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Impaired glucose ...	ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De...	ORPHA:90793
Premature Ovarian Failure 13	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen...	OMIM:617442
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Leukocytosis, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia,...	ORPHA:90065
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Craniosynostosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Genera...	OMIM:227810
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch...	OMIM:616267
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalem...	OMIM:617913
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa...	ORPHA:228305
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci...	ORPHA:79303
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,...	OMIM:252500
Timothy Syndrome	Hypothyroidism, Hypoglycemia, Hypocalcemia, Cardiomegaly	OMIM:601005
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Hyperthyroidism, Hypercalcemia, Eosinophilia...	ORPHA:797
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
X-Linked Agammaglobulinemia	Neutropenia, Weight loss, Anemia, Hypocalcemia, Cellulitis, Failure to thrive, Thrombocytopenia	ORPHA:47
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Early onset of sexual mat...	OMIM:194050
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus...	OMIM:613404
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo...	OMIM:259720
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Intestinal malrotation...	OMIM:600001
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Elevated circulating creatine kinase concentr...	OMIM:619518
Alg9-Cdg	Omphalocele, Hepatomegaly, Torticollis, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypopl...	ORPHA:79328
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly...	ORPHA:904
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Dystonia, Hepatomegaly, Failure to thrive, Anisocytosis, Cardi...	OMIM:618278
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Micropenis, Hypocalcemia, Hypoplastic spleen, Decreased skull ossifi...	OMIM:602361
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response t...	OMIM:602782
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle...	OMIM:613327
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, H...	OMIM:212138
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis...	ORPHA:2323
Lymphoid Interstitial Pneumonia	Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney	ORPHA:79128
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Amin...	OMIM:619055
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency	OMIM:618752
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Bachmann-Bupp Syndrome	Cryptorchidism, Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Cryptorchidism, Recurrent hypoglycemia, Delayed puberty, Hypothyroidism	OMIM:616817
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Hypoglycemia, Small for gestational age, Cryptorchidism, Hypocalcemia, Micropenis, F...	OMIM:607143
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Hepatic steatos...	ORPHA:348
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Sotos Syndrome	Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Hypospa...	ORPHA:821
Atypical Werner Syndrome	Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Premature ovarian insufficiency, Abno...	ORPHA:79474
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia...	ORPHA:428
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepatic cholestasis,...	OMIM:617093
Ogden Syndrome	Global glomerulosclerosis, Torticollis, Inguinal hernia, Maternal diabetes, Cardiomegaly, Cryptor...	OMIM:300855
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Dextrocardia	Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hyp...	ORPHA:1666
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Hyperammonemia	OMIM:618253
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul...	OMIM:618183
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn...	OMIM:208540
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture	OMIM:620275
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Renal salt was...	ORPHA:275761
Perlman Syndrome	Distal ileal atresia, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for g...	OMIM:267000
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici...	ORPHA:3464
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Oculogyric crisis,...	ORPHA:94093
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Enlarged kidney	ORPHA:276280
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di...	ORPHA:1667
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Hypocalcem...	OMIM:235255
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, Increased ...	OMIM:219090
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti...	ORPHA:101330
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Endocrine-Cerebroosteodysplasia	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged k...	OMIM:612651
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Hypothyroidism	ORPHA:1563
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal...	ORPHA:731
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, H...	OMIM:617053
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl...	OMIM:307030
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio...	ORPHA:26791
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ...	OMIM:617156
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:289548
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Decr...	ORPHA:168558
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly	OMIM:231670
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
D-Glyceric Aciduria	Aminoaciduria, Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia	OMIM:220120
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Inguinal hernia, Recurrent urinary tract infections, Hypoglycemia, Smal...	OMIM:613658
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Elevated circulating cr...	OMIM:614921
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Cryptorchidism, Splenomegaly, Abnormal renal morphology, Hepatospl...	ORPHA:1655
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:615453
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo...	ORPHA:31824
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Hsd10 Disease, Infantile Type	Hypoglycemia, Hyperammonemia	ORPHA:391428
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Renal phosphate wasting, Hypocalcemia, Hypopho...	ORPHA:352540
Bacterial Toxic-Shock Syndrome	Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine...	ORPHA:36234
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, Flexion contracture, Failure to thrive, HbH hemog...	ORPHA:98791
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic ...	ORPHA:500095
Fanconi Anemia, Complementation Group A	Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren...	OMIM:227650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hyponatr...	ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepatic steatosis, Hyperal...	OMIM:618329
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Aceruloplasminemia	Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir...	ORPHA:48818
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Failure to ...	OMIM:210210
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodu...	OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Hypoglycemia	OMIM:611126
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Neuhauser Syndrome	Osteopenia, Hypercholesterolemia, Primary hypothyroidism	OMIM:249310
Partial Androgen Insensitivity Syndrome	Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc...	ORPHA:90797
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglyce...	ORPHA:159
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Shwachman-Diamond Syndrome 2	Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Failure to thrive, Exocrine panc...	OMIM:617941
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, ...	OMIM:260400
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypochr...	ORPHA:97214
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Hypocalcemia, Left ventricular hypertrophy, Hyp...	ORPHA:746
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypercholesterolemia, Hypothyroidism	ORPHA:2479
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus	OMIM:184850
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly	OMIM:261740
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Failure to thrive, Hypothyroidism, Hypoglycemia	OMIM:618005
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O...	ORPHA:813
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive	ORPHA:2609
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Cryptorchidism, Recurrent hypoglycemi...	ORPHA:79324
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Villous atrophy, Pancreatic fibro...	OMIM:557000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recur...	OMIM:124000
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Decreased circu...	OMIM:250790
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti...	ORPHA:449432
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes...	OMIM:277460
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth...	OMIM:232240
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholesterolemia, Micropenis	OMIM:619471
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias, Decreased testicular size	OMIM:610644
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Neonatal hypoglycemia, Congenital foot contractures	ORPHA:565624
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Diabetes mellitus, Leukocytosis, Hyperkalemia, Oliguria, ...	ORPHA:544482
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid...	OMIM:608978
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Failur...	ORPHA:3008
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, Decreased circulating andr...	ORPHA:90796
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:480864
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th toe	ORPHA:457279
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata...	ORPHA:171
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr...	ORPHA:109
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Flexion contracture, Hypoglycemia, Decreased response to growth ho...	OMIM:616007
Liver Disease, Severe Congenital	Cardiomegaly, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron conce...	OMIM:619991
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated c...	OMIM:616878
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia,...	OMIM:306955
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteopetrosis...	ORPHA:667
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Cortical thickening of long bone diaphyses, Abnormal circulating follicle-stimulating hor...	ORPHA:93325
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micropenis, Male infertility, S...	ORPHA:251510
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Splenomegaly, Jau...	OMIM:608779
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Neonatal hypoglycemia	OMIM:617600
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Microvesicular hepatic steatosis, Elevated circulating glutaric acid co...	ORPHA:66634
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Umbil...	OMIM:301066
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Thrombocytopenia, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydr...	ORPHA:163979
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphatemia, ...	OMIM:229600
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility	ORPHA:244
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in hepato...	ORPHA:20
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin, Failure to thrive	ORPHA:778
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Hypothyroidism	ORPHA:3198
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroidi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroidi...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroidi...	ORPHA:99226
Turner Syndrome	Osteopenia, Ectopic kidney, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroidi...	ORPHA:881
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Umbilical hernia, Hypoglycemia	OMIM:614501
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congeni...	ORPHA:2162
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Decreased response to gr...	OMIM:176270
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Contractur...	ORPHA:83617
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Abnormal bone ossification, Mucopolysacchariduria, H...	ORPHA:175
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Sotos Syndrome	Cryptorchidism, Increased body weight, Glucose intolerance, Prolonged neonatal jaundice, Neonatal...	OMIM:117550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Leigh Syndrome	Multiple joint contractures, Hypoglycemia, Generalized aminoaciduria, Hyperalaninemia, Failure to...	ORPHA:506
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Hydronephrosis	OMIM:620327
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Shigellosis	Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Peritonitis, Abnormal blood ion concent...	ORPHA:810
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Hyp...	ORPHA:363618
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, Hypoglycemia	OMIM:620224
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Splenomegaly, Crypto...	OMIM:312870
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Flexion contracture, Failure to thrive, Hepat...	ORPHA:17
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Decreased circulating renin level, Hyponatremia, Cryptorchi...	OMIM:201750
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Enl...	OMIM:618280
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Hypospadias, Abnormal dental enamel morphol...	ORPHA:567
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Partial d...	OMIM:608800
Digeorge Syndrome	Renal dysplasia, Inguinal hernia, Renal insufficiency, Femoral hernia, Parathyroid agenesis, Unil...	OMIM:188400
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Splenomegaly, Horseshoe kidney, Hypoca...	ORPHA:2136
Deeah Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:619004
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Menkes Disease	Inguinal hernia, Hypoglycemia, Atypical scarring of skin, Hernia, Prolonged neonatal jaundice, Um...	ORPHA:565
Double Outlet Right Ventricle	Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypocalcemia	ORPHA:3426
Simpson-Golabi-Behmel Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia...	ORPHA:373
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Diabetes ins...	ORPHA:423479
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Hereditary Fructose Intolerance	Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney...	OMIM:218330
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Jaundice, Hyperammonemia, Elevated circu...	ORPHA:79282
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Urinary incontinence, Cardiomegaly, Hepatosplenomegal...	OMIM:268800
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ...	ORPHA:99429
Oculodentodigital Dysplasia	Umbilical hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycemia	ORPHA:2710
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig...	ORPHA:99867
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Weight l...	ORPHA:3337
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic micr...	OMIM:301040
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature...	ORPHA:125
Craniofacioskeletal Syndrome	Hydronephrosis, Cryptorchidism, Hypospadias, Hypocalcemia	OMIM:300712
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Conjugated hyperbilirubinemia,...	OMIM:620305
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Dark urine, Inguinal hernia, Hepatomegaly, Renal insufficiency, Failure to thrive, An...	OMIM:619534
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Cryptorchidism, Hypocalcemia, Umbilical hernia	OMIM:192430
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response, Flexion contracture	OMIM:618201
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm	OMIM:613807
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperalaninemia, Failure to thrive	OMIM:252010
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Jaun...	ORPHA:99826
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Exaggerated startle response, Decreased serum iron, Abnormality of the endocrine syst...	ORPHA:438213
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries	ORPHA:137675
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Precocious puberty, He...	ORPHA:845
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Isotretinoin-Like Syndrome	Inguinal hernia, Lymphopenia, Hypocalcemia	ORPHA:2306
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract...	OMIM:619503
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Jaundice, Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets...	OMIM:220111
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Abnormal o...	ORPHA:79255
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Exaggerated startle response, Joint contracture	OMIM:616881
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Hypospadias, Small for gestational age, Increased VLDL cholester...	OMIM:243800
Charge Syndrome	Omphalocele, Hypoparathyroidism, Hypogonadotropic hypogonadism, Renal agenesis, Decreased respons...	OMIM:214800
Acute Liver Failure	Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hyperammonemia, Adr...	ORPHA:90062
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Decreased serum testosterone concentration, Streak ovary, Unilateral cryptorchi...	ORPHA:1772
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Flexion contracture	OMIM:609541
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia	OMIM:149400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response, Joint contracture	OMIM:617864
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures	ORPHA:320406
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar...	OMIM:617301
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia	OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra...	OMIM:253800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Costello Syndrome	Achilles tendon contracture, Failure to thrive, Hypoglycemia	OMIM:218040
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Exaggerated startle response, Failure to thrive, Congenital hyp...	OMIM:617527
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Umbilical hernia, Hypocalcemia, Dystonia	OMIM:620330
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Proteinuri...	ORPHA:79318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Ciliary Dyskinesia, Primary, 1	Asplenia, Male infertility	OMIM:244400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes...	OMIM:619522
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic ...	ORPHA:2968
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Cystic Fibrosis	Male infertility, Hepatomegaly, Hypercalciuria, Hepatosplenomegaly, Steatorrhea, Failure to thrive	OMIM:219700
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367

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 Gcgr

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 Gcgr.

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

Title	Journal	IMPC Allele	PubMed ID
Glucagon Couples Hepatic Amino Acid Catabolism to mTOR-Dependent Regulation of α-Cell Mass.	Cell reports (July 2015)	Gcgr^{tm1(KOMP)Vlcg}	26166562

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MGI Allele	Allele Type	Produced
Gcgr^{tm406443(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Gcgr^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Gcgr^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gcgr MGI:99572

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

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X-ray

Adult LacZ

Human diseases caused by Gcgr mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data