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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 red blood cell distribution width	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.26×10^-15
decreased hemoglobin content	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.54×10^-06
increased circulating cholesterol level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.02×10^-09
abnormal heart left ventricle morphology	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.81×10^-05
abnormal retina outer nuclear layer morphology	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.82×10^-26
decreased cornea thickness	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.28×10^-07
increased circulating HDL cholesterol level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.56×10^-13
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 total retina thickness	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.14×10^-29
increased circulating phosphate level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.86×10^-07
abnormal auditory brainstem response	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.65×10^-05
abnormal retina morphology	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.15×10^-16
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
increased circulating alanine transaminase level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.30×10^-05
increased blood urea nitrogen level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.78×10^-05
decreased circulating calcium level	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.47×10^-07
decreased lymphocyte cell number	Adipor1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.35×10^-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	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Liver	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Mammary gland	Wholemount images	heterozygote	Not available
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 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 Lateral Orientation

21 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Adult LacZ

LacZ Images Wholemount

25 Images

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Echo

M-Mode Images

32 Images

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Immunophenotyping

Panel B FCS file(s)

13 Images

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Immunophenotyping

Panel A 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 (863 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	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	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	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	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
Essential Fructosuria	Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl...	ORPHA:2056
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	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	Hypoglycemia, Insulin resistance, 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 Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	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
Acid-Labile Subunit Deficiency	Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty	OMIM:615961
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Multiple Symmetric Lipomatosis	Insulin resistance	ORPHA:2398
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance	OMIM:311100
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h...	ORPHA:171706
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia	OMIM:261650
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi...	OMIM:144300
RCAD (renal cysts and diabetes)	Diabetes mellitus	DECIPHER:47
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Hypoparathyroidism, Familial Isolated, 1	Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme...	OMIM:204000
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Preaxial Hallucal Polydactyly	Diabetes mellitus	OMIM:601759
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	OMIM:603552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Autoimmune Hypoparathyroidism	Cataract, Confusion, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, H...	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	Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani...	OMIM:616959
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp...	ORPHA:276580
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas...	OMIM:615363
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria	ORPHA:2089
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Cranial Nerves, Recurrent Paresis Of	Diabetes mellitus	OMIM:218200
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid...	OMIM:301033
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia, Cognitive impairment	ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a...	OMIM:615158
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins...	ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s...	OMIM:613101
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating crea...	OMIM:610717
Intermediate Osteopetrosis	Thrombocytopenia, Cranial nerve compression, Hepatosplenomegaly, Hypocalcemia, Optic atrophy from...	ORPHA:210110
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc...	OMIM:619658
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc...	ORPHA:90301
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Hypocalcemia, Anemia, Hearing impairment	ORPHA:53
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Sensorineural hearing impairment, Angioid streaks of the fundus,...	OMIM:239000
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance	OMIM:613877
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 34	Congenital sensorineural hearing impairment, Pancytopenia, Elevated circulating creatinine concen...	OMIM:617872
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany	OMIM:612462
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Acquired Partial Lipodystrophy	Insulin resistance	ORPHA:79087
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Hypophosphatemia, Mental deterioration, Retinopathy, Iris c...	ORPHA:2611
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Developmental cataract, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcem...	ORPHA:93325
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hypertriglyceridemia	OMIM:615924
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Cataract, Hyperphosphatemia, Cognitive impairment	OMIM:103580
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Wolfram-Like Syndrome	Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo...	ORPHA:411590
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit...	ORPHA:528
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, ...	ORPHA:94089
Cole Disease	Hyperglycemia	OMIM:615522
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S...	OMIM:224120
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Facial paralysis, ...	OMIM:259700
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari...	ORPHA:65
Primary Intestinal Lymphangiectasia	Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca...	ORPHA:90362
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo...	OMIM:211900
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Progressive psychomotor deterioration, Abnormal retinal morphology on macular OCT,...	ORPHA:251004
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sensorineural hearing impairment, Anemia, Conjunctivitis, ...	ORPHA:47
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level, Abse...	ORPHA:785
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona...	ORPHA:293964
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase	OMIM:615453
Autosomal Dominant Hypocalcemia	Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability	ORPHA:428
Brittle Cornea Syndrome 1	Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t...	OMIM:229200
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hyperinsulinemia, Elevated circulating alkaline phosphatase concen...	ORPHA:263455
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, External ear malformation, Astigmatism, Hyper...	ORPHA:2323
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Galactokinase Deficiency	Psychomotor deterioration, Cataract, Sensorineural hearing impairment, Hepatosplenomegaly, Increa...	ORPHA:79237
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Microtriplication 11Q24.1	Keratoconus, Attached earlobe, Posteriorly rotated ears, Hyperlipidemia, Hearing impairment	ORPHA:289522
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypocalcemia	ORPHA:163693
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-...	ORPHA:2298
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures	OMIM:241410
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le...	OMIM:259720
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Abnormal heart morphology, EEG abnormality, Hypercholes...	OMIM:182290
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate aminotransferase co...	ORPHA:2088
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Sensorineural hearing impairment, Corneal...	ORPHA:90354
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Diabetes mellitus	OMIM:615980
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Insulin resistance, Elevated circulating alanin...	OMIM:615381
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Microcytic anemia, Congenital sensorineural hearing im...	ORPHA:293967
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia	OMIM:620357
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Mpi-Cdg	Abnormal circulating enzyme concentration or activity, Portal hypertension, Decreased liver funct...	ORPHA:79319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Glucose intolerance	ORPHA:75563
Oculoskeletodental Syndrome	Hypercalcemia, Sensorineural hearing impairment, Developmental cataract, Hypocalcemia, Conductive...	ORPHA:557003
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy	ORPHA:71
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po...	OMIM:246200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Schistocytosis, Elevated circulating creatinine concentration, Microa...	OMIM:274150
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Sensorineural hearing impairment, Hypercalcemia, Anemia	ORPHA:2668
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Confusion, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hyp...	ORPHA:79444
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Placental Insufficiency	Insulin resistance	ORPHA:439167
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hypoglycemia	ORPHA:35
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme...	OMIM:208920
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia of the inner ear...	ORPHA:2306
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate aminotransferase co...	OMIM:617253
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Low-set ears	ORPHA:1438
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Rhabdoid Tumor	Thrombocytopenia, Irritability, Hypercalcemia, Anemia	ORPHA:69077
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Protruding ear, Keratoglobus, Astigmatism, Reti...	OMIM:108145
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality...	ORPHA:848
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Confusion, Band keratopathy, Sensorineural hearing impairment, Depression, ...	ORPHA:79443
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Retinal degeneration, Hypertriglyceridemia	OMIM:277700
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Cog4-Cdg	Hypercholesterolemia, Irritability, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Hypophosphatasia	Irritability, Hypercalcemia, Anemia	ORPHA:436
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Optic atrophy, Pigmentary retinopathy, Conjunctivi...	ORPHA:90321
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Colchicine Poisoning	Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo...	ORPHA:31824
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H...	ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Confusion, Myocarditis, Elevated cir...	ORPHA:36234
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Reni Syndrome	Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia, Mental deterioration, Ly...	OMIM:617575
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529799
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Depression, Hyperuricemia, Cognitive impairment, Memory impairment	ORPHA:77296
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Hypotonia-Cystinuria Syndrome	Macrotia, Facial palsy, Posteriorly rotated ears, Hypocalcemia	OMIM:606407
Dent Disease 2	Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia	OMIM:300555
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cataract, Thrombocytopenia, Splenomegaly, Neutropenia, Steatorrhea...	ORPHA:699
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Aceruloplasminemia	Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, Dementia,...	OMIM:604290
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, Depression, Dementia,...	ORPHA:444490
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto...	OMIM:618278
Familial Isolated Hypoparathyroidism	Cataract, Hypocalcemia	ORPHA:2238
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia, Blue irides, Hearing impairment	OMIM:101800
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia	OMIM:241520
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Ornithine Transcarbamylase Deficiency	Hepatic failure, Hypoglycemia	ORPHA:664
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond...	ORPHA:423
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote...	OMIM:616267
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Oculoskeletodental Syndrome	Hypercalcemia, Splenomegaly, Developmental cataract, Hypocalcemia, Hearing impairment	OMIM:618440
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ...	ORPHA:2785
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Abnormal pinna morphology, Sensorineural hearing impairment, Hypocalcemia, Pa...	OMIM:607143
Dahlberg-Borer-Newcomer Syndrome	Cataract, Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d...	OMIM:201400
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Griscelli Syndrome Type 1	Hyperlipidemia, Retinopathy, Iris hypopigmentation	ORPHA:79476
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Por...	ORPHA:465508
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Left...	ORPHA:90065
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Facial diplegia, Hyp...	ORPHA:31150
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Microcornea, EEG abnormality, Attention deficit hyperac...	ORPHA:819
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Optic atrophy, Hypocalcemia, Cognitive impairment	OMIM:618476
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra...	OMIM:277460
Adamantinoma	Hypercalcemia	ORPHA:55881
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H...	ORPHA:466650
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Protruding ear, Abnorm...	ORPHA:401777
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Depression, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Thrombocytosis	OMIM:212750
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Sensorineural hearing impairment, Abnormal granulocyte morphology, Cardiomy...	ORPHA:98907
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Corneal arcus, Xanthelasma, Abnormal LDL cholesterol concentration	OMIM:603776
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline	OMIM:603471
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Aganglionic megacolon, EE...	ORPHA:175
Gracile Bone Dysplasia	Aniridia, Hypoplastic spleen, Hypocalcemia, Asplenia	OMIM:602361
Double Outlet Right Ventricle	Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl...	ORPHA:3426
Mitochondrial Trifunctional Protein Deficiency	Left ventricular hypertrophy, Pigmentary retinopathy, Hypocalcemia, Cardiomyopathy	ORPHA:746
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Low-set ...	OMIM:618183
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellit...	ORPHA:412
Velocardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypocalcemia, Retinal vascular tortuosity, Emotio...	OMIM:192430
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	ORPHA:280365
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz...	ORPHA:71212
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Hemorrhagic Fever-Renal Syndrome	Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr...	ORPHA:340
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Cardiomyopathy, Neutropenia, Anemia	ORPHA:79312
Dend Syndrome	Hyperglycemia	ORPHA:79134
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui...	ORPHA:90674
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Splenomegaly, Hypocalcemia, Low-set ears, Hypoproteinemia	OMIM:235255
Fanconi-Bickel Syndrome	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:227810
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Elevated circulating creatinine concentration, Recurrent corneal erosion...	OMIM:223900
Cystinosis	Retinopathy, Hypokalemia, Corneal opacity, Hypophosphatemia	ORPHA:213
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia...	OMIM:619260
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Patent foramen ovale, Retinal degeneration, Hypsarrhythmia	ORPHA:542306
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Dilated c...	OMIM:203800
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the iris, EEG abnor...	ORPHA:2479
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Insulin resistance, Hypoglycemia	ORPHA:73272
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Elevate...	ORPHA:423479
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Diabetes mellitus, Maternal diabetes	ORPHA:79083
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Optic atrophy, Hyperammonemia, Neutropenia, Anemia	ORPHA:289916
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Low-set ears, Hypoprot...	ORPHA:1655
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Elevated circulating creatinine concentration, Anemia, Increased blood u...	ORPHA:230
Non-Functioning Paraganglioma	Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression, Conductiv...	ORPHA:94080
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H...	ORPHA:470
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure	OMIM:616483
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia	OMIM:617591
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Orthostatic Hypotension 1	Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen	OMIM:223360
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, Optic nerve co...	ORPHA:667
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase con...	OMIM:232400
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Hepatitis, Portal hypertension	ORPHA:440713
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia, Cognitive impairment	ORPHA:364
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance	OMIM:214150
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Cholera	Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia	ORPHA:173
Bardet-Biedl Syndrome 20	Papilledema, Atrial septal defect, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia...	OMIM:619471
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Jaundice, Diabetes mellitus	ORPHA:676
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter	OMIM:210740
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, Iris hypopigmentation	ORPHA:79477
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance	OMIM:309620
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Abetalipoproteinemia	Retinopathy, Abetalipoproteinemia, Retinal degeneration, Acanthocytosis	OMIM:200100
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Diabetes mellitus	ORPHA:2348
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ...	ORPHA:846
Hypophosphatasia, Infantile	Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anemia	OMIM:241500
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Posteriorly rotated ears, Ventricular septal defect, Thrombocytopenia, Microtia, Hypocalcemia, Hy...	ORPHA:163979
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Warburg-Cinotti Syndrome	Hypoplasia of the ear cartilage, Retinal dystrophy, Symblepharon, Posteriorly rotated ears, Limba...	OMIM:618175
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia	ORPHA:79086
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren...	ORPHA:199296
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormal heart morphology, Hypocalcemia, Progressive sensorineural hearing impairment, Rod-cone d...	ORPHA:2237
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Lysosomal Acid Lipase Deficiency	Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	ORPHA:275761
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Dilated cardiomyopathy, Hypertriglyceridemia, Elevated c...	ORPHA:98855
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Conductive hearing impairment, Smal...	ORPHA:567
Neuhauser Syndrome	Iridodonesis, Cupped ear, Hypoplasia of the iris, Large fleshy ears, Hypercholesterolemia, Megalo...	OMIM:249310
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,...	ORPHA:98853
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hyperinsulinemic hypoglycemia	OMIM:602579
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Liver Disease, Severe Congenital	Cardiomegaly, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Atria...	OMIM:619991
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Orthost...	ORPHA:199299
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy, Splenomegaly,...	OMIM:619418
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Microtia, Elevated circulating creatinine concentration, Increa...	OMIM:154230
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Eleva...	ORPHA:98863
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve morphology, A...	ORPHA:77293
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Alagille Syndrome 1	Cataract, Hypertriglyceridemia, Ventricular septal defect, Band keratopathy, Macrotia, Abnormal a...	OMIM:118450
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Insulin resistance, Hyperinsulinemia	OMIM:613327
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Vitamin D-Dependent Rickets, Type 2A	Hearing impairment, Irritability, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia, Low-set ears	OMIM:614732
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, Gait disturbance, Chol...	ORPHA:778
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H...	ORPHA:73224
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Se...	OMIM:300972
Silver-Russell Syndrome	Precocious puberty, Premature adrenarche, Recurrent hypoglycemia, Insulin resistance	ORPHA:813
Hennekam Syndrome	External ear malformation, Splenomegaly, Pericardial effusion, Hypocalcemia, Low-set ears, Conduc...	ORPHA:2136
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Hyperkalemia, Hypocalce...	ORPHA:544482
Alport Syndrome 3A, Autosomal Dominant	Sensorineural hearing impairment, Hypophosphatemia, Azotemia, Anterior polar cataract, Lenticonus...	OMIM:104200
Xp21 Deletion Syndrome	Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase concentration	ORPHA:261476
Ethylene Glycol Poisoning	Confusion, Facial palsy, Hyperkalemia, Euphoria, Hypocalcemia	ORPHA:31826
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
H Syndrome	Hypertriglyceridemia, Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Corneal arcus, H...	ORPHA:168569
Isolated Permanent Neonatal Diabetes Mellitus	Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Glyco...	ORPHA:99885
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, Abnormal heart morpholog...	ORPHA:369837
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis...	ORPHA:292
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hyperlipidemia, Irritability	ORPHA:369
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism	OMIM:268020
Costello Syndrome	Keratoconus, Low-set, posteriorly rotated ears, Ventricular septal defect, Mitral valve prolapse,...	ORPHA:3071
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating alkaline phosphatase concentrat...	OMIM:124000
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Sensorineural hearing imp...	ORPHA:760
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Cystinosis, Nephropathic	Hyponatremia, Progressive neurologic deterioration, Hypomagnesemia, Retinal pigment epithelial mo...	OMIM:219800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Hypocalciuric Hypercalcemia, Familial, Type Iii	Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Cognitive ...	ORPHA:79259
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, H...	ORPHA:95409
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Angelman Syndrome	Keratoconus, Optic disc pallor, Optic atrophy, EEG abnormality, Astigmatism, Iris hypopigmentation	ORPHA:72
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Hypoammonemia, Chorio...	ORPHA:534
Craniofacioskeletal Syndrome	Ventricular septal defect, Posteriorly rotated ears, Microtia, Hypocalcemia, Atrial septal defect	OMIM:300712
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology, Confusion	ORPHA:31825
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Gitelman Syndrome	Pericardial effusion, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomag...	ORPHA:358
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hearing impairment, Hypophosphatemia	OMIM:156400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci...	OMIM:300539
Monosomy 13Q34	Insulin resistance	ORPHA:96168
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:829
Werner Syndrome	Hypogonadism, Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus	ORPHA:902
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Delayed puberty	ORPHA:90154
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression, Conductiv...	ORPHA:276621
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Charge Syndrome	Secundum atrial septal defect, Hypocalcemia, Atrial septal defect, Iris coloboma, Overriding aort...	OMIM:214800
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus, Hypothyroidism	OMIM:616541
Gapo Syndrome	Keratoconus, Optic atrophy, Low-set ears, Hearing impairment	ORPHA:2067
Alagille Syndrome	Keratoconus, Ventricular septal defect, Corneal dystrophy, Abnormal pupil morphology, Protruding ...	ORPHA:52
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Retinal dystrophy, Protruding ear, Hypocalcemia, Low-set ears	OMIM:218330
Vici Syndrome	Atrial septal defect, Cataract, Left ventricular hypertrophy, Elevated circulating creatine kinas...	OMIM:242840
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia, Developmental cataract	OMIM:171300
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Whipple Disease	Insulin resistance, Hypothyroidism	ORPHA:3452
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le...	ORPHA:3226
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Conductive hearing impairment, Crani...	ORPHA:29072
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Gapo Syndrome	Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding ear, EEG abno...	OMIM:230740
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per...	ORPHA:206443
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Digeorge Syndrome	Ventricular septal defect, Sclerocornea, Thrombocytopenia, Splenomegaly, Tetralogy of Fallot, Hyp...	OMIM:188400
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre...	OMIM:300946
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally...	OMIM:109120
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L...	OMIM:310600
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Cuppe...	OMIM:617052
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, H...	ORPHA:85138
Aromatase Deficiency	Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:91
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance	ORPHA:90153
Mccune-Albright Syndrome	Pancytopenia, Increased circulating cortisol level, Hypophosphatemia, Primary hypercortisolism, H...	ORPHA:562
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Fabry Disease	Conjunctival telangiectasia, Abnormal endocardium morphology, Cataract, Corneal opacity, Corneal ...	ORPHA:324
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Car...	OMIM:255120
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic...	ORPHA:206436
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Precocious puberty, Insulin resistance, Fa...	ORPHA:96182
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Sneddon Syndrome	Mental deterioration, Lymphopenia, Bicuspid aortic valve, Facial palsy	OMIM:182410
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Atypical Werner Syndrome	Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus...	ORPHA:79474
Hb Bart'S Hydrops Fetalis	Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia	ORPHA:163596
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu...	ORPHA:36238
Nail-Patella Syndrome	Keratoconus, Cataract, Sensorineural hearing impairment, Antecubital pterygium, Microcornea, Micr...	OMIM:161200
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Cerebrotendinous Xanthomatosis	Optic disc pallor, Short attention span, Optic neuropathy, Abnormal auditory evoked potentials, A...	ORPHA:909
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability	OMIM:616881
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia...	ORPHA:293987
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia	ORPHA:97289
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Pericardial effusion, Mitral valve prolapse, Keratoconjunctivitis sicca, As...	ORPHA:536532
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn...	ORPHA:1830
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Congenital Horner syndrome, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Muscular...	OMIM:619503
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole...	ORPHA:401973
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Optic nerve hypoplasia, Posteriorly rotated ears, Protruding ear, Hypo...	OMIM:620330
Mogs-Cdg	Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph...	ORPHA:79330
Scorpion Envenomation	Increased circulating lactate dehydrogenase concentration, Hyperglycemia, Elevated circulating as...	ORPHA:466677
Arterial Tortuosity Syndrome	Keratoconus, Ventricular hypertrophy, Astigmatism, Aortic valve stenosis, Macrotia	OMIM:208050
Bardet-Biedl Syndrome 1	Nephrogenic diabetes insipidus, Insulin resistance, Diabetes mellitus, Hypogonadism	OMIM:209900
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Hypercalcemia	OMIM:602080
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Arterial Tortuosity Syndrome	Keratoconus, Myocarditis, Dilated cardiomyopathy, Keratoglobus, Abnormal myocardium morphology, H...	ORPHA:3342
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, Vacuolated lymp...	ORPHA:565612
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia	OMIM:612301
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Hypercalcemia, Attention deficit hyperactivity disorder	ORPHA:476126
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hyperlipidemia	ORPHA:1414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia, Lipemia retinalis	OMIM:232220
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-...	OMIM:617099
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hearing impairment, Hypophosphatemia	ORPHA:249
Neutral Lipid Storage Myopathy	Cardiomyopathy, Sensorineural hearing impairment, Hypertriglyceridemia, Abnormal circulating crea...	ORPHA:98908
Cockayne Syndrome A	Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea...	OMIM:216400
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Opsismodysplasia	Posteriorly rotated ears, Low-set ears, Hypophosphatemia	OMIM:258480
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Dent Disease 1	Hypophosphatemia	OMIM:300009
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Glucagonoma	Hypercalcemia, Acanthocytosis, Depression, Increased circulating cortisol level, Normochromic ane...	ORPHA:97280
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, D...	ORPHA:124
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A...	OMIM:615934
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Atrial septal defect, Astigmatism, Ventricular septal defect	OMIM:619769
Mandibuloacral Dysplasia Progeroid Syndrome	Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Left ventricular hyper...	OMIM:619127
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Raine Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Protruding ear, Lo...	OMIM:259775
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Thrombocytopenia, Steatorrhea, Persist...	OMIM:260400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Microcornea, Retinal detachment, Keratoconus	OMIM:225400
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Sensorineural hearing impairment, Hypophosphatemic rickets, Hypocalcemic ...	ORPHA:289176
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, External ear malformation, Hyperlipidemia, Senso...	ORPHA:254346
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic...	ORPHA:98791
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Lymphopenia	ORPHA:549
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:444077
Pgm3-Cdg	Hemolytic anemia, Mild neurosensory hearing impairment, Abnormal proportion of CD8-positive T cel...	ORPHA:443811
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating acylcarnit...	ORPHA:228308
Dent Disease	Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Somatostatinoma	Increased circulating cortisol level, Hypercalcemia, Hypochromic microcytic anemia, Steatorrhea	ORPHA:97283
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Vipoma	Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Normochromic anemia	ORPHA:97282
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lympho...	ORPHA:508542
Johanson-Blizzard Syndrome	Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi...	OMIM:243800
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy...	OMIM:601678
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili...	OMIM:617237
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Depr...	ORPHA:847
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Mental deterioration, Progressiv...	ORPHA:206448
Glycerol Kinase Deficiency	Low-set ears, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Khan-Khan-Katsanis Syndrome	Peters anomaly, Sensorineural hearing impairment, Corneal scarring, Buphthalmos, Pigmentary retin...	OMIM:618460
Acquired Methemoglobinemia	Methemoglobinemia, Confusion	ORPHA:464453
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Protru...	OMIM:619534
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Overfolded helix, Cupped ear, Low-set ears	OMIM:617101
Lujo Hemorrhagic Fever	Confusion, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Leuk...	ORPHA:319213
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for...	ORPHA:404454
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocy...	OMIM:612541
Goodpasture Syndrome	Anemia, Increased blood urea nitrogen	OMIM:233450
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Increased corneal thickness, Abnormal pinna morphology, Sensorineural h...	ORPHA:2363
Aapoaiv Amyloidosis	Cardiac amyloidosis, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated circulating creatinine...	ORPHA:439232
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Protrudi...	ORPHA:904
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
X-Linked Hypophosphatemia	Sensorineural hearing impairment, Tooth abscess, Hypophosphatemia	ORPHA:89936
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Hypertriglyceridemia, Posteriorly rotated ears,...	ORPHA:3455
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Homozygous Familial Hypercholesterolemia	Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, ...	ORPHA:391665
Japanese Encephalitis	Hyponatremia, Decreased motor nerve conduction velocity, Neutrophilia, Facial palsy, EEG with bur...	ORPHA:79139
Sarcoidosis	Hemolytic anemia, Cataract, Hypercalcemia, Eosinophilia, Facial palsy, Thrombocytopenia, Increase...	ORPHA:797
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Syndromic Diarrhea	Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, T...	ORPHA:84064
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:881
Ataxia-Telangiectasia	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Acute lymphobl...	OMIM:208900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Ventricular septal defect, Sensorineural hearing impairment, Reduced al...	OMIM:301040
Icf Syndrome	Anemia, Lymphopenia, Low-set ears, Abnormality of neutrophils	ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Azotemia	OMIM:619321
Wiedemann-Rautenstrauch Syndrome	Cataract, Hypertriglyceridemia, Posteriorly rotated ears, Secundum atrial septal defect, Hypoplas...	OMIM:264090
Fusariosis	Brain abscess, Lung abscess, Abnormal retinal morphology, Keratitis, Abnormality of the spleen, G...	ORPHA:228119
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Aganglionic megacolon, Hypercalcemia, Prominent corneal nerve fibers	ORPHA:653
Glycogen Storage Disease Ic	Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Ppoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97278
Williams-Beuren Syndrome	Short attention span, Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Retinal ar...	OMIM:194050
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Confusion, Perica...	ORPHA:99827
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Hypercalcemia, Cranial nerve compression, Depression, Increased ...	ORPHA:652
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Grfoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97261
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal heart valve morphology, Abnormal pupil morphology, Aplasia/Hypoplasia of th...	ORPHA:286
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Hypercalcemia	ORPHA:913
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Delayed menarche, Pubertal devel...	ORPHA:740
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy	OMIM:260920
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Cushing Disease	Lymphopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Leukocyt...	ORPHA:96253
Primary Sjögren Syndrome	Normocytic anemia, Abnormality of the peripheral nervous system, Depression, Leukopenia, Keratoco...	ORPHA:289390
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Absent earlobe, Anemia, Mitral valve prolapse	OMIM:130050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Reynolds Syndrome	Calcinosis, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia	OMIM:613471
Sotos Syndrome	Atrial septal defect, Cataract, Aganglionic megacolon, Hypercalcemia, Ventricular septal defect, ...	ORPHA:821
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca, Decreased nerve conduction velocity, Depression	ORPHA:285
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,...	ORPHA:906
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia	ORPHA:293173
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated card...	ORPHA:3260
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cataract, Hypertriglyceridemia, Retinal pigment epith...	ORPHA:64
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Cognitive impairment, Lymphopenia, Aganglionic megacolon, Anemia	ORPHA:935
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Pmm2-Cdg	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone...	ORPHA:79318
Woodhouse-Sakati Syndrome	Hyperlipidemia, Sensorineural hearing impairment, Hearing impairment, Protruding ear	OMIM:241080
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

X-ray

X-ray

Adult LacZ

Echo

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Adipor1 mutations

Histopathology

IMPC related publications

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