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Gene: Adipor1 MGI:1919924

Gene Summary

Name:

adiponectin receptor 1

Synonyms:

2810031L11Rik

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 circulating HDL cholesterol level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.56×10^-13
decreased cornea thickness	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.28×10^-07
abnormal retina morphology	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.15×10^-16
decreased exploration in new environment	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.82×10^-08
increased circulating triglyceride level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.63×10^-05
decreased circulating calcium level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.47×10^-07
increased red blood cell distribution width	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.26×10^-15
abnormal auditory brainstem response	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.87×10^-05
decreased circulating alkaline phosphatase level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.06×10^-07
increased neutrophil cell number	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.57×10^-05
abnormal retina outer nuclear layer morphology	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.82×10^-26
decreased lymphocyte cell number	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.35×10^-05
increased blood urea nitrogen level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.75×10^-05
decreased total retina thickness	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.14×10^-29
increased circulating cholesterol level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.02×10^-09
increased circulating phosphate level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.86×10^-07
abnormal heart left ventricle morphology	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.81×10^-05
decreased hemoglobin content	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.54×10^-06
increased circulating alanine transaminase level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.30×10^-05

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	Not available
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	100% (2 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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Echo

M-Mode Images

32 Images

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Adult LacZ

LacZ Images Wholemount

25 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Immunophenotyping

Panel A FCS file(s)

13 Images

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Immunophenotyping

Panel B FCS file(s)

13 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Adipor1 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 Adipor1 (0 diseases)
Human diseases predicted to be associated with Adipor1 (900 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adipor1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Multiple Symmetric Lipomatosis	Insulin resistance	ORPHA:2398
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia	ORPHA:314802
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth...	ORPHA:99886
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia, Hypocalcemia	DECIPHER:16
Niemann-Pick Disease, Type B	Mental deterioration, Abnormal macular morphology, Sea-blue histiocytosis, Increased LDL choleste...	OMIM:607616
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance	OMIM:311100
Cortisone Reductase Deficiency 2	Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio...	OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan...	OMIM:612526
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ...	OMIM:616959
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ...	OMIM:262400
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy...	ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni...	OMIM:204000
RCAD (renal cysts and diabetes)	Diabetes mellitus	DECIPHER:47
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Diabetes mellitus	ORPHA:79084
Hyperlipoproteinemia, Type Ii, And Deafness	Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer...	OMIM:144300
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul...	ORPHA:324575
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures	OMIM:146200
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:171706
Preaxial Hallucal Polydactyly	Diabetes mellitus	OMIM:601759
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Neu...	OMIM:603552
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Autoimmune Hypoparathyroidism	Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritabili...	ORPHA:36913
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis	OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276580
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated circulating hepatic transaminase conce...	ORPHA:2089
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Papilledema, Developmental cataract, Transient hypophosphatemia,...	OMIM:127000
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia, Cognitive impairment	ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Alpha-Heavy Chain Disease	Anemia, Splenomegaly, Hypocalcemia	ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus	ORPHA:79085
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276575
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi...	OMIM:262700
Cranial Nerves, Recurrent Paresis Of	Diabetes mellitus	OMIM:218200
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615158
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc...	OMIM:619658
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Retinal degeneratio...	OMIM:615558
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti...	OMIM:604393
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:616033
Pseudohypoparathyroidism Type 1B	Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Conjunc...	ORPHA:94089
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Congenital sensorineural hearing imp...	OMIM:617872
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hearing impairment, Retinopathy, Hyperuricemia, Angioid streaks of the fundus,...	OMIM:239000
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul...	OMIM:615954
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus	OMIM:613877
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Albers-Schönberg Osteopetrosis	Optic atrophy, Hearing impairment, Hypocalcemia, Abnormal leukocyte morphology, Anemia, Facial palsy	ORPHA:53
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Cognitive impairment	OMIM:612462
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71526
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste...	OMIM:151660
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus	ORPHA:435651
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Acquired Partial Lipodystrophy	Insulin resistance	ORPHA:79087
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Leber Congenital Amaurosis 9	Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Linear Verrucous Nevus Syndrome	Mental deterioration, Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of th...	ORPHA:2611
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Sp...	OMIM:300635
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Developmental cataract, Anemia, Retinal calc...	ORPHA:93325
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hypertriglyceridemia	OMIM:615924
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive...	ORPHA:276556
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro...	OMIM:613845
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia	OMIM:607250
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli...	ORPHA:435660
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia	OMIM:620282
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Depression, Interictal EEG abnormality, Sideroblastic anemia, Pappenheimer b...	OMIM:301310
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Cataract	OMIM:103580
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Thrombocytosis, Leukocytosis, Hypocalcemia, Hyperuricemia, Ele...	ORPHA:94093
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s...	ORPHA:528
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance	OMIM:620639
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c...	OMIM:616828
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Wolfram-Like Syndrome	Male hypogonadism, Glucose intolerance, Central diabetes insipidus, Hypothyroidism, Delayed puber...	ORPHA:411590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
X-Linked Agammaglobulinemia	Hypocalcemia, Sensorineural hearing impairment, Recurrent cutaneous abscess formation, Neutropeni...	ORPHA:47
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Undetectable visual evoked potentials, Mydriasis, Extramedullary hematopoiesis, He...	OMIM:259720
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Episodic hemolytic anemia, Increased blood urea nitrogen, ...	ORPHA:251004
Leber Congenital Amaurosis	Keratoconus, Cataract, Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic di...	ORPHA:65
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Lipemia retinalis, Hypercholestero...	OMIM:207750
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Hearing impairment, Pancytopenia, Hypocalcemia, Splenomegaly, Th...	OMIM:259700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Calcin...	OMIM:211900
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia	ORPHA:89937
Galactokinase Deficiency	Cataract, Nuclear cataract, Hepatosplenomegaly, Sensorineural hearing impairment, Hypercholestero...	ORPHA:79237
Lcat Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased circulating apolipoprote...	ORPHA:650
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Keratoglobus, Sclerocornea, F...	OMIM:614170
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Absence of secondary sex characteristics, Abse...	ORPHA:785
Tangier Disease	Facial diplegia, Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II con...	OMIM:205400
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:615453
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Hearing impairment, Mitral valve prolapse, Keratoglobus,...	OMIM:229200
Microtriplication 11Q24.1	Keratoconus, Hearing impairment, Hyperlipidemia, Attached earlobe, Posteriorly rotated ears	ORPHA:289522
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti...	ORPHA:263455
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Autosomal Dominant Hypocalcemia	Optic atrophy, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia	ORPHA:428
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Hearing impairment, Abnormal heart morphology, Abnormal middl...	OMIM:182290
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypocalcemia	ORPHA:163693
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Sanjad-Sakati Syndrome	Hyperphosphatemia, Low-set, posteriorly rotated ears, Hypocalcemia, Astigmatism, Corneal opacity,...	ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Posteriorly rotated ears	OMIM:241410
Hepatic Lipase Deficiency	Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia	OMIM:620152
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Brittle Cornea Syndrome	Conductive hearing impairment, Corneal scarring, Corneal erosion, Mitral valve prolapse, Sensorin...	ORPHA:90354
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran...	ORPHA:2088
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Diabetes mellitus	OMIM:615980
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ...	OMIM:616222
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia	OMIM:175500
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital sensorineural hearing im...	ORPHA:293967
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, E...	OMIM:615381
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Oculoskeletodental Syndrome	Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment...	ORPHA:557003
Mpi-Cdg	Decreased liver function, Abnormal circulating enzyme concentration or activity, Portal hypertens...	ORPHA:79319
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti...	OMIM:274150
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Cole Disease	Hyperglycemia	OMIM:615522
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Donohue Syndrome	Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet...	OMIM:246200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance	ORPHA:75563
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia	OMIM:619013
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia, Sensorineural hearing impairment	ORPHA:2668
Placental Insufficiency	Insulin resistance	ORPHA:439167
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hypoglycemia	ORPHA:35
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Increased LDL cholestero...	OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat...	OMIM:617253
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Mental deterioration, Elevated circulating creatine kinase concentration, Hyperc...	OMIM:208920
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231226
Pseudohypoparathyroidism Type 1C	Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritabili...	ORPHA:79444
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Ring Chromosome 10 Syndrome	Low-set ears, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Aganglionic megacolon	ORPHA:1438
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Protruding ear, Retinal fold, Kera...	OMIM:108145
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Beta-Thalassemia	Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, ...	ORPHA:848
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai...	OMIM:617519
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Cataract, Hearing impairment, Abnormality of peripheral ne...	ORPHA:90321
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Conjunctival i...	ORPHA:529808
Werner Syndrome	Elevated hemoglobin A1c, Retinal degeneration, Cataract, Hypertriglyceridemia	OMIM:277700
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Conjunctival i...	ORPHA:529799
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Cardiomyopathy, Leukocytosis, Hypocalcemia, Splenomegaly, Irritability, Hypop...	ORPHA:289157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Hyperammonemia, Hypocalcemia...	ORPHA:26793
Cog4-Cdg	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability	ORPHA:263501
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia	ORPHA:94059
Familial Chylomicronemia Syndrome	Depression, Memory impairment, Increased circulating chylomicron concentration, Abnormal emotion,...	ORPHA:444490
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Rhabdoid Tumor	Anemia, Hypercalcemia, Thrombocytopenia, Irritability	ORPHA:69077
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Keratoconus, Sensorineural hearing impairment, Increased serum bile acid concent...	OMIM:242150
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Hypoprotei...	ORPHA:167
Timothy Syndrome	Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly	OMIM:601005
Hypophosphatasia	Anemia, Hypercalcemia, Irritability	ORPHA:436
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Citrullinemia Type Ii	Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy...	ORPHA:247585
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi...	ORPHA:31824
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hypocalcemia, Abscess,...	ORPHA:36234
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Pseudohypoparathyroidism Type 1A	Cataract, Depression, Hyperphosphatemia, Band keratopathy, Hypocalcemic tetany, Confusion, Hypoca...	ORPHA:79443
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Pearson Syndrome	Cataract, Pigmentary retinopathy, Hearing impairment, Cardiomyopathy, Hypomagnesemia, Abnormal he...	ORPHA:699
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Reni Syndrome	Hypoalbuminemia, Mental deterioration, Lymphopenia, Sensorineural hearing impairment, Hypertrigly...	OMIM:617575
Morgagni-Stewart-Morel Syndrome	Memory impairment, Depression, Hyperuricemia, Hypercholesterolemia, Cognitive impairment	ORPHA:77296
Hypotonia-Cystinuria Syndrome	Facial palsy, Posteriorly rotated ears, Hypocalcemia, Macrotia	OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Irritability, Cardiom...	OMIM:618278
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Dent Disease 2	Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration	OMIM:300555
Griscelli Syndrome Type 1	Iris hypopigmentation, Hyperlipidemia, Retinopathy	ORPHA:79476
Oculoskeletodental Syndrome	Hearing impairment, Splenomegaly, Hypocalcemia, Developmental cataract, Hypercalcemia	OMIM:618440
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Familial Isolated Hypoparathyroidism	Cataract, Hypocalcemia	ORPHA:2238
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia, Hearing impairment, Blue irides	OMIM:101800
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment	OMIM:241520
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Ornithine Transcarbamylase Deficiency	Hepatic failure, Hypoglycemia	ORPHA:664
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Hyperkalemia, Hyperphosphatemia, Elevated creatine kin...	ORPHA:423
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Patent foramen ovale, Sensorineural hearing impairment, Retinal detachment, Abnorma...	OMIM:607143
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract...	OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Dahlberg-Borer-Newcomer Syndrome	Cataract, Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Smith-Magenis Syndrome	Microcornea, Conductive hearing impairment, Attention deficit hyperactivity disorder, Retinal det...	ORPHA:819
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Citrullinemia, Type Ii, Adult-Onset	Confusion, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline	OMIM:603471
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Elevated circulating alpha-fetoprote...	OMIM:616267
Ataxia With Vitamin E Deficiency	Short term memory impairment, Xanthelasma, Increased LDL cholesterol concentration, Hypercholeste...	OMIM:277460
Cartilage-Hair Hypoplasia	Cardiomyopathy, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypocalce...	ORPHA:175
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairm...	ORPHA:98907
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Se...	ORPHA:540
Laron Syndrome	Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin...	ORPHA:633
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Hypercholesterolemia, Familial, 3	Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,...	OMIM:201400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability	OMIM:264700
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Hypogonadotropic ...	ORPHA:465508
Celiac Disease, Susceptibility To, 1	Depression, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Steatorrhea	OMIM:212750
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, ...	OMIM:618183
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Conductive hearing impairment, Cranial nerve compression, Pancytopenia, Leukopenia...	ORPHA:2785
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Abnormal helix morphology, Keratoconus, Optic disc hypoplasia, Hearing impairment,...	ORPHA:401777
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cognitive impairment, Optic atrophy, Hypocalcemia, Mental deterioration	OMIM:618476
Neuhauser Syndrome	Cupped ear, Megalocornea, Large fleshy ears, Hypoplasia of the iris, Iridodonesis, Retinal detach...	OMIM:249310
Adamantinoma	Hypercalcemia	ORPHA:55881
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Leukocytosis, Left ventricular hypertrophy, Hypercholesterolemia, Cognitive im...	ORPHA:90065
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating...	ORPHA:37042
Gracile Bone Dysplasia	Asplenia, Aniridia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Short Syndrome	Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:269880
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, T...	ORPHA:466650
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Dend Syndrome	Hyperglycemia	ORPHA:79134
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Hypocalcemia, Abnormality of cartilage of external e...	ORPHA:3426
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of ...	OMIM:617780
Dysbetalipoproteinemia	Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglycer...	ORPHA:412
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Velocardiofacial Syndrome	Retinal vascular tortuosity, Tetralogy of Fallot, Emotional lability, Hypocalcemia, Ventricular s...	OMIM:192430
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy	ORPHA:746
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Emotional lability, Recurrent corneal erosions, In...	OMIM:223900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Fasting hyperinsulinemia, Acute hepatic ...	ORPHA:71212
Immunodeficiency 8 With Lymphoproliferation	Recurrent otitis media, Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricu...	ORPHA:31150
Abcd Syndrome	Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Polycyth...	OMIM:600501
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Cataract, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Leukocytosis, Thromb...	ORPHA:340
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Cardiomyopathy, Hyperammonemia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia	ORPHA:79312
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Retinopath...	ORPHA:251380
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre...	OMIM:300539
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur...	ORPHA:90674
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Diabetes mellitus, Decreased serum leptin	ORPHA:280365
Hypercholesterolemia, Familial, 2	Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Retinitis Pigmentosa	Optic atrophy, Keratoconus, Posterior subcapsular cataract, Conductive hearing impairment, Attenu...	ORPHA:791
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, G...	OMIM:227810
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect	OMIM:616730
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal dege...	OMIM:619260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Splenomegaly, Hypocalcemia, Ventricular septal defect, Hypoproteinemia	OMIM:235255
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ...	ORPHA:96184
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Cystinosis	Hypokalemia, Hypophosphatemia, Retinopathy, Corneal opacity	ORPHA:213
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Optic nerve compression, Abnormal pulmonary valve morphology, Hypocalcemia, O...	ORPHA:667
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Hypsarrhythmia, Patent foramen ovale, Retinal degeneration	ORPHA:542306
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me...	ORPHA:769
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen...	ORPHA:3240
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Orthostatic hypotension, Increased...	OMIM:223360
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Cognitive impairment, Hyperuricemia	ORPHA:364
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:232400
Megalocornea-Intellectual Disability Syndrome	Megalocornea, Hypoplasia of the iris, Astigmatism, Sensorineural hearing impairment, Protruding e...	ORPHA:2479
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Hypogonadism	ORPHA:73272
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Combined Oxidative Phosphorylation Deficiency 55	High-frequency hearing impairment, Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating...	OMIM:619743
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C...	ORPHA:470
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic...	ORPHA:230
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Diabetes mellitus, Maternal diabetes, Insulin-resistant diabetes mellitus	ORPHA:79083
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce...	ORPHA:411634
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ...	ORPHA:199296
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Conjunctivitis	OMIM:617591
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Ventricular septal defect, Hypoprot...	ORPHA:1655
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Non-Functioning Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Hypertensive retinopathy, Hypercalcemia...	ORPHA:94080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Abnormal retinal nerve fiber lay...	ORPHA:1215
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Alstrom Syndrome	Pigmentary retinopathy, Dilated cardiomyopathy, Progressive sensorineural hearing impairment, Att...	OMIM:203800
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly...	OMIM:616483
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Astigmatism, Papilledema, Hypercholesterolemia, Atrial septal defect...	OMIM:619471
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Portal hypertension, Hepatitis	ORPHA:440713
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance	OMIM:214150
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Hypertriglyceridemia	OMIM:618010
Keratoconus Posticus Circumscriptus	Central posterior corneal opacity, Keratoconus	OMIM:244600
Cholera	Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Conjunctival icterus, Pancytopenia, Leukopenia, Erythro...	ORPHA:447
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Thrombocytopen...	ORPHA:163979
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hereditary Chronic Pancreatitis	Jaundice, Abnormal circulating enzyme concentration or activity, Diabetes mellitus	ORPHA:676
Bangstad Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Overweight, Hypercholesterolemia	ORPHA:401923
Abetalipoproteinemia	Acanthocytosis, Retinopathy, Abetalipoproteinemia, Retinal degeneration	OMIM:200100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Dysdiadochokinesis, Failure to thrive, Decreased ad...	OMIM:606721
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Diabetes mellitus	ORPHA:2348
Warburg-Cinotti Syndrome	Low-set ears, Symblepharon, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atres...	OMIM:618175
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Irritability	OMIM:241500
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Mohr-Tranebjaerg Syndrome	Optic atrophy, Mental deterioration, Prelingual sensorineural hearing impairment, Abnormality of ...	ORPHA:52368
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Acquired Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:79086
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatem...	ORPHA:411629
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp...	ORPHA:275761
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Progressive sensorineural hearing impairment, Abnormal heart morphology, Hypocalcemia, Rod-cone d...	ORPHA:2237
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thromb...	ORPHA:444463
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C...	ORPHA:293603
Christian Syndrome	Glucose intolerance	OMIM:309620
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked...	OMIM:617523
Liver Disease, Severe Congenital	Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular sep...	OMIM:619991
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Sensorineural hearing impa...	OMIM:154230
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Ventricular septal defect, Posterior embryotoxon, Atrial septal...	ORPHA:567
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Hemolytic anemia, Leukopenia, Reduced...	OMIM:301110
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	OMIM:218030
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Dilated cardiomyopathy, Elevated circulating creatine ki...	ORPHA:98855
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hyperinsulinemic hypoglycemia	OMIM:602579
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Emery-Dreifuss Muscular Dystrophy	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Increased LDL cholesterol concentration, Ele...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Increased LDL cholesterol concentration, Ele...	ORPHA:98853
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia	OMIM:617056
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Neutral Lipid Storage Disease With Myopathy	Hearing impairment, Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Elevated circ...	OMIM:610717
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Polysplenia, Profound hearing impairment, Hypertriglyceridemia, Splenomegaly, V...	OMIM:619418
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent...	OMIM:245480
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Lymphopenia, De...	OMIM:619573
Apparent Mineralocorticoid Excess	Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokalemia, Hypert...	ORPHA:320
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration	OMIM:613327
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertrophic cardiomyopathy, Increased LDL cholesterol concentration, Elevated circulating creati...	ORPHA:98863
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect	OMIM:618348
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyperuricemia, Macrocytic anemia, Hyponatremia, Decreased circulating cortisol...	ORPHA:199299
Xp21 Deletion Syndrome	Recurrent otitis media, Confusion, Elevated circulating creatine kinase concentration, Hypertrigl...	ORPHA:261476
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei...	ORPHA:1930
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Decreased liver function	OMIM:620423
Isolated Permanent Neonatal Diabetes Mellitus	Hyperglycemia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitus, Glyco...	ORPHA:99885
Chronic Visceral Acid Sphingomyelinase Deficiency	Depression, Abnormal circulating lipid concentration, Cherry red spot of the macula, Abnormal hea...	ORPHA:77293
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Alagille Syndrome 1	Low-set ears, Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Tetralogy of Fallo...	OMIM:118450
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Alport Syndrome 3A, Autosomal Dominant	Hearing impairment, Sensorineural hearing impairment, Anterior polar cataract, Hypophosphatemia, ...	OMIM:104200
Down Syndrome	Neutrophilia, Keratoconus, Cataract, Secundum atrial septal defect, Conductive hearing impairment...	ORPHA:870
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia, Hearing impairment, Irritability	OMIM:277440
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hyperlipidemia, Irritability	ORPHA:369
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Hypercalcemia	OMIM:614732
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Immunodeficiency 18	Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De...	OMIM:615615
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Sensorineural hearing impairment, ...	OMIM:300972
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Myocarditis, Hyperkale...	ORPHA:544482
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Pe...	ORPHA:73224
Hennekam Syndrome	Low-set ears, Conductive hearing impairment, Lymphopenia, Hypocalcemia, Splenomegaly, Pericardial...	ORPHA:2136
H Syndrome	Corneal arcus, Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Hypertriglyceridemia, H...	ORPHA:168569
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Silver-Russell Syndrome	Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia	ORPHA:813
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Ethylene Glycol Poisoning	Confusion, Hypocalcemia, Euphoria, Facial palsy, Hyperkalemia	ORPHA:31826
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Methanol Poisoning	Confusion, Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De...	OMIM:608594
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment, Abnorma...	ORPHA:760
Congenital Enterovirus Infection	Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage mo...	ORPHA:292
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Corneal crystals, Retinal ...	OMIM:219800
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hepatosplenomegaly, Hypophosphatemia, Hypophosphatemi...	OMIM:307800
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Costello Syndrome	Keratoconus, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Large earlobe, Mitra...	ORPHA:3071
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Restrictive cardiomyopathy, Hearing impairment, EEG with generalized sharp slow wav...	ORPHA:369837
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Hypergonadotropic hypogonadism, Insulin-...	OMIM:268020
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:124000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:241530
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Orthostatic...	ORPHA:95409
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Cognitive impairment, Hypertrig...	ORPHA:79259
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv...	ORPHA:83471
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor...	OMIM:300946
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Depression, Buphthalmos, Hyperaldosteronism, Low-set, posteriorly rotated ...	ORPHA:534
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression	OMIM:600740
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver...	ORPHA:54251
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:269700
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Craniofacioskeletal Syndrome	Hypocalcemia, Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Microtia	OMIM:300712
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Optic atrophy, Astigmatism, EEG abnormality, Optic disc pallor	ORPHA:72
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Tinnitus, Iron deficiency anemia, Pri...	ORPHA:358
Monosomy 13Q34	Insulin resistance	ORPHA:96168
Lead Poisoning	Memory impairment, Depression, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concent...	ORPHA:330015
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia	OMIM:613658
Werner Syndrome	Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus, Hypogonadism	ORPHA:902
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Mental deterioration, Decreased nerve...	ORPHA:206443
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper...	ORPHA:508
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Hearing impairment	OMIM:156400
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia, Cataract	ORPHA:469
Fabry Disease	Optic atrophy, Cataract, Depression, Hearing impairment, Abnormal circulating lipid concentration...	ORPHA:324
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Hypertensive retinopathy, Hypercalcemia...	ORPHA:276621
Charge Syndrome	Low-set ears, Lymphopenia, Ventricular septal defect, Sensorineural hearing impairment, Overridin...	OMIM:214800
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Hypothyroidism, Diabetes mellitus	OMIM:616541
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pure red cell aplasia, Lymphopenia, Otitis media, Autoimmune hemolytic anemia, Sple...	OMIM:613179
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splenomegaly, Sensorineural hearin...	ORPHA:3226
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Hypokalemia, Decrease...	OMIM:615474
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Prader-Willi Syndrome	Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive...	OMIM:176270
Cranioectodermal Dysplasia 1	Low-set ears, Hypocalcemia, Protruding ear, Bicuspid aortic valve, Retinal dystrophy	OMIM:218330
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Ventricular septal defect, Protruding ear, Atrial septal ...	ORPHA:52
Gapo Syndrome	Low-set ears, Optic atrophy, Keratoconus, Hearing impairment	ORPHA:2067
Beta-Thalassemia Major	Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231214
Vici Syndrome	Low-set ears, Cataract, Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopathy, O...	OMIM:242840
Whipple Disease	Insulin resistance, Hypothyroidism	ORPHA:3452
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Digeorge Syndrome	Low-set ears, Tetralogy of Fallot, Recurrent otitis media, Hypocalcemia, Splenomegaly, Truncus ar...	OMIM:188400
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia, Developmental cataract	OMIM:171300
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Delayed puberty	ORPHA:90154
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Mental deterioration, ...	ORPHA:206436
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Conductive hearing impairment, Cranial nerve compression, Aniridia,...	ORPHA:29072
Gapo Syndrome	Optic atrophy, Keratoconus, Megalocornea, Retinal arteriolar tortuosity, Protruding ear, EEG abno...	OMIM:230740
Addison Disease	Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, Decreas...	ORPHA:85138
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu...	OMIM:619644
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Senso...	OMIM:109120
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur...	OMIM:310600
Cerebrotendinous Xanthomatosis	Optic atrophy, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,...	ORPHA:909
Bone Marrow Failure Syndrome 3	Aplastic anemia, Cupped ear, Hearing impairment, Persistence of hemoglobin F, Increased mean corp...	OMIM:617052
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance	ORPHA:90153
Aromatase Deficiency	Insulin resistance, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:91
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort...	ORPHA:556037
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon...	ORPHA:96182
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul...	ORPHA:79330
Mccune-Albright Syndrome	Increased circulating cortisol level, Hearing impairment, Pancytopenia, Primary hypercortisolism,...	ORPHA:562
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na...	ORPHA:1830
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary...	ORPHA:363618
Staphylococcal Necrotizing Pneumonia	Confusion, Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concen...	ORPHA:36238
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level	OMIM:103900
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Adult-Onset Still Disease	Neutrophilia, Abnormal circulating lipid concentration, Increased circulating ferritin concentrat...	ORPHA:829
Sneddon Syndrome	Lymphopenia, Mental deterioration, Bicuspid aortic valve, Facial palsy	OMIM:182410
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Tinnitus, Decreased circulating renin level, Glucocortocoid-insensitive primary hype...	ORPHA:231632
Trichothiodystrophy 6, Nonphotosensitive	Bilateral sensorineural hearing impairment, Decreased mean corpuscular volume, Microcornea, Incre...	OMIM:616943
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability	OMIM:616881
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly, Pericarditis	ORPHA:163596
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Atypical Werner Syndrome	Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l...	ORPHA:79474
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Tinnitus, G...	ORPHA:231625
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Low-set ears, Hypomagnesemia, Mitral atresia, Muscular ventricular septal...	OMIM:619503
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi...	ORPHA:293987
Thymic Neuroendocrine Tumor	Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, ...	ORPHA:79102
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Emotional lability, Hypocalcemia, Ventricular septal defect, Protruding ear, Attention deficit hy...	OMIM:620330
Scorpion Envenomation	Elevated circulating aspartate aminotransferase concentration, Increased circulating lactate dehy...	ORPHA:466677
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Sensorineural hearing impairment, Lester's sign, Antecubital ...	OMIM:161200
Rett Syndrome	Failure to thrive, Difficulty walking, Inability to walk, Increased serum leptin, Hyperammonemia,...	ORPHA:778
Mend Syndrome	Aortic valve stenosis, Low-set ears, Cataract, Abnormal auditory evoked potentials, Abnormal hear...	ORPHA:401973
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly	ORPHA:1414
Classical-Like Ehlers-Danlos Syndrome Type 2	Astigmatism, Mitral valve prolapse, Keratoconjunctivitis sicca, Hypertriglyceridemia, Pericardial...	ORPHA:536532
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Bardet-Biedl Syndrome 1	Insulin resistance, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism	OMIM:209900
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Bardet-Biedl Syndrome	Cataract, Depression, Hearing impairment, Cardiomyopathy, Decreased HDL cholesterol concentration...	ORPHA:110
Immunodeficiency 13	Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv...	OMIM:615518
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Keratoconus, Astigmatism, Macrotia	OMIM:208050
Arterial Tortuosity Syndrome	Keratoconus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal myocardium morphology,...	ORPHA:3342
Neutral Lipid Storage Myopathy	Sensorineural hearing impairment, Abnormal circulating creatine kinase concentration, Cardiomyopa...	ORPHA:98908
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Tinnitus, Decreased circulati...	ORPHA:231580
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cataract, Retinal pig...	OMIM:216400
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Lipemia retinalis, Neutropenia	OMIM:232220
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Bilateral conductive hearing impairment	OMIM:602080
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Optic nerve compression, Splenomegaly, Anemia, Hypocalcemic seizures	OMIM:612301
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Transient hyperlipidemia, Hyperammonemia, Elevated circulating creatine kinase conc...	OMIM:255120
Spinal Cord Injury	Hypercalcemia, Abnormal autonomic nervous system physiology	ORPHA:90058
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Microcytic anemia, Punctate opacification of the cornea, Hypertriglycerid...	OMIM:256040
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Hypokalemia, Decreased circulating renin level	OMIM:613677
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:620185
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Attention deficit hyperactivity disorder, Hypercalcemia, Complete atrioventricular canal defect	ORPHA:476126
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Ventricular hypertrophy, Iris coloboma, Cataract, Retinal coloboma, Recurrent otiti...	OMIM:620654
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Recurrent otitis media, Lymphopenia, Hepato...	OMIM:618986
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level, Hearing impairment	ORPHA:249
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel...	OMIM:617099
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Opsismodysplasia	Low-set ears, Hypophosphatemia, Posteriorly rotated ears	OMIM:258480
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Dent Disease 1	Hypophosphatemia	OMIM:300009
Glucagonoma	Depression, Increased circulating cortisol level, Acanthocytosis, Steatorrhea, Hypercalcemia, Nor...	ORPHA:97280
19P13.12 Microdeletion Syndrome	Low-set ears, Conductive hearing impairment, Hyperlipidemia, Sensorineural hearing impairment, Ve...	ORPHA:254346
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Anemia, Thrombocytosis, Elevated circulating C-reactive protein concentr...	OMIM:615934
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence...	ORPHA:124
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Transient hyperlipidemia	ORPHA:156
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, N...	OMIM:260400
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Microcornea, Hypoplas...	OMIM:133540
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Astigmatism, Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect	OMIM:619769
Mandibuloacral Dysplasia Progeroid Syndrome	Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification, Hypertriglyceride...	OMIM:619127
Mirage Syndrome	Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen	OMIM:617053
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Adult Krabbe Disease	Progressive neurologic deterioration, Mental deterioration, Delayed brainstem auditory evoked res...	ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Raine Syndrome	Low-set ears, Protruding ear, Hypophosphatemia, Mixed hearing impairment, Posteriorly rotated ear...	OMIM:259775
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia,...	ORPHA:3243
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Mild neurosensory hearing impairment, ...	ORPHA:443811
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:228308
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Depression, Memory impairment, Increased circulating cortisol level, Hyperaldosteronism, Hyperlip...	ORPHA:189427
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Dilated cardiomyopathy, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatos...	OMIM:615688
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
Legionnaires Disease	Lymphopenia, Splenomegaly, Hyponatremia, Myocarditis, Endocarditis, Pericarditis	ORPHA:549
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Microcornea, Retinal detachment	OMIM:225400
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, D...	ORPHA:273
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hyperglycemia, Hypothyroidism	ORPHA:444077
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hemoglobin, Microcytic...	ORPHA:98791
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne...	OMIM:614868
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Hearing impairment, Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocyto...	ORPHA:508542
Vipoma	Hypokalemia, Hypercalcemia, Increased circulating cortisol level, Normochromic anemia	ORPHA:97282
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,...	OMIM:620565
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:601678
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Conjunctival icterus, Situs inversus totalis, Hypocalcemia, Splenomegaly,...	OMIM:243800
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Dent Disease	Renal hypophosphatemia, Cataract, Elevated circulating creatine kinase concentration	ORPHA:1652
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Corneal scarring, Elevated circulating creatine kinase...	OMIM:309000
Somatostatinoma	Steatorrhea, Hypercalcemia, Increased circulating cortisol level, Hypochromic microcytic anemia	ORPHA:97283
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Aapoaiv Amyloidosis	Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyperlipidemia, Cardi...	ORPHA:439232
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:157
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Depression, Abnormal hemoglobin, Sensorineural hearing impairment, Aganglionic meg...	ORPHA:847
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Acquired Methemoglobinemia	Confusion, Methemoglobinemia	ORPHA:464453
Goodpasture Syndrome	Anemia, Increased blood urea nitrogen	OMIM:233450
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F	OMIM:617101
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Peters anomaly, Lymphopenia, Corneal scarring, Patent foramen ovale, Sens...	OMIM:618460
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Hyperbilirubinemia, V...	OMIM:619534
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Lujo Hemorrhagic Fever	Mental deterioration, Lymphopenia, Confusion, Leukopenia, Leukocytosis, Thrombocytopenia, Myocard...	ORPHA:319213
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Hearing impairment, Lymphopenia, Hepatosplenomegaly, Leukopenia, O...	OMIM:612541
Glycerol Kinase Deficiency	Low-set ears, Hyperglycerolemia, Hypertriglyceridemia	OMIM:307030
Williams Syndrome	Megalocornea, Mitral valve prolapse, Ventricular septal defect, Sensorineural hearing impairment,...	ORPHA:904
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran...	ORPHA:404454
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep...	OMIM:609136
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets, Tooth abscess, Sensorineural hearing impairment	ORPHA:289176
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Optic atrophy, Pigmentary retinopathy, Cataract, Optic disc hypoplasia, Recurrent o...	ORPHA:3455
Lacrimoauriculodentodigital Syndrome	Low-set ears, Cupped ear, Conductive hearing impairment, Limbal stem cell deficiency, Corneal neo...	ORPHA:2363
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia, Sensorineural hearing impairment	ORPHA:89936
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Sarcoidosis	Cataract, Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Keratoconjunctivitis s...	ORPHA:797
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ...	OMIM:249100
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Myocardial steatosis, Hypercholesterolem...	ORPHA:391665
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Japanese Encephalitis	Decreased motor nerve conduction velocity, EEG with burst suppression, Hyponatremia, Cognitive im...	ORPHA:79139
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Glucose intolerance, T...	ORPHA:99413
Mosaic Monosomy X	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Glucose intolerance, T...	ORPHA:99228
Monosomy X	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Glucose intolerance, T...	ORPHA:99226
Turner Syndrome	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Glucose intolerance, T...	ORPHA:881
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Syndromic Diarrhea	Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Splenomegaly, Ventricular septal def...	ORPHA:84064
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Glycogen Storage Disease Ic	Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Leukocytosis, Azotemia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Icf Syndrome	Low-set ears, Lymphopenia, Anemia, Abnormality of neutrophils	ORPHA:2268
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, HbH hemoglobin, Sensorineural hearing impairment, Ventricular septal defect, Perime...	OMIM:301040
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri...	OMIM:618935
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Fusariosis	Keratitis, Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutro...	ORPHA:228119
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp...	ORPHA:171929
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc...	ORPHA:567983
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Cataract, Secundum atrial septal defect, Hypoplasia of the thymus, Hypertriglycerid...	OMIM:264090
Keppen-Lubinsky Syndrome	Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta...	OMIM:614098
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Ganglioneuromatosis, Hypercalcemia, Prominent corneal nerve fibers	ORPHA:653
Ppoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97278
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Coronary artery stenosis, Retinal arteriolar tortuosity, Re...	OMIM:194050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Otitis media, Splenomegaly, Ap...	OMIM:602450
Reynolds Syndrome	Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Steatorrhea	OMIM:613471
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Confusion, Pancytopenia, Leukopenia, Leukocytosis, Emotional lability, Splenomegaly...	ORPHA:99827
Multiple Endocrine Neoplasia Type 1	Depression, Increased circulating cortisol level, Cranial nerve compression, Confusion, Primary h...	ORPHA:652
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Otitis...	ORPHA:906
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Primary Sjögren Syndrome	Normocytic anemia, Corneal perforation, Depression, Lymphopenia, Leukopenia, Decreased proportion...	ORPHA:289390
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Delayed menarche, Pubertal developmental failure in females, Female hypogonad...	ORPHA:740
Grfoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97261
Zollinger-Ellison Syndrome	Hypercalcemia, Increased circulating cortisol level	ORPHA:913
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Neutrophilia, Optic disc pallor	OMIM:260920
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Depression, Decreased nerve conduction velocity, Mitral valve prolapse, Keratoconjun...	ORPHA:285
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin	OMIM:614008
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Keratoconus, Abnormal heart valve morphology, Abnormal pupil ...	ORPHA:286
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Cushing Disease	Depression, Memory impairment, Increased circulating cortisol level, Lymphopenia, Optic nerve com...	ORPHA:96253
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Sotos Syndrome	Cataract, Conductive hearing impairment, Hearing impairment, Abnormal heart morphology, Astigmati...	ORPHA:821
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Absent earlobe, Keratoconus, Mitral valve prolapse	OMIM:130050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Alström Syndrome	Cataract, Posterior subcapsular cataract, Dilated cardiomyopathy, Progressive sensorineural heari...	ORPHA:64
Idiopathic Hypereosinophilic Syndrome	Memory impairment, Dilated cardiomyopathy, Confusion, Hepatosplenomegaly, Thrombocytosis, Leukocy...	ORPHA:3260
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis	ORPHA:293173
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Aganglionic megacolon, Lymphopenia, Cognitive impairment	ORPHA:935
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos...	ORPHA:56
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Recurrent otitis media, Lymphopenia, Impaired lymphocyte transformat...	OMIM:600802
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Recurrent otitis media, Lymphopenia, Decreased proportion of CD8-...	OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Impaired lympho...	ORPHA:35078
Woodhouse-Sakati Syndrome	Protruding ear, Hyperlipidemia, Hearing impairment, Sensorineural hearing impairment	OMIM:241080
Pmm2-Cdg	Insulin resistance, Elevated circulating hepatic transaminase concentration, Elevated circulating...	ORPHA:79318
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Conductive hearing impairment, Decreased circulating renin level, Hyponatremia, Dec...	OMIM:201750
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968

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 Adipor1

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 Adipor1.

No publications found that use IMPC mice or data for Adipor1.

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

MGI Allele	Allele Type	Produced
Adipor1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Adipor1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Adipor1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Adipor1 MGI:1919924

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

Adult LacZ

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Adipor1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data