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Gene: Adipor1 MGI:1919924

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Gene Summary

Name:
adiponectin receptor 1
Synonyms:
2810031L11Rik

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased circulating HDL cholesterol level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 9.56×10-13
decreased cornea thickness Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 5.28×10-07
decreased circulating calcium level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-07
abnormal retina morphology Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 6.27×10-17
increased circulating triglyceride level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 5.63×10-05
increased red blood cell distribution width Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.26×10-15
decreased lymphocyte cell number Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.35×10-05
decreased circulating alkaline phosphatase level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 2.06×10-07
abnormal auditory brainstem response Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 5.65×10-05
increased blood urea nitrogen level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 9.75×10-05
increased circulating alanine transaminase level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 5.30×10-05
increased neutrophil cell number Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 3.57×10-05
abnormal heart left ventricle morphology Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 5.81×10-05
abnormal retina outer nuclear layer morphology Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 4.82×10-26
decreased hemoglobin content Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.54×10-06
increased circulating cholesterol level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 1.02×10-09
increased circulating phosphate level Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 5.86×10-07
decreased total retina thickness Adipor1tm1b(EUCOMM)Hmgu HOM Early adult 8.14×10-29
decreased exploration in new environment Adipor1tm1b(EUCOMM)Hmgu HOM   Early adult 6.82×10-08

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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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Adult LacZ

LacZ Images Wholemount

25 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

13 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

13 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.

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 Similarity of
phenotypes		 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, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal 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, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or ac... ORPHA:2056
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
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... 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
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Acid-Labile Subunit Deficiency
Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1 OMIM:615961
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase ORPHA:329249
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat... OMIM:607616
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... 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
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... OMIM:612526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Decr... OMIM:262400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Leber Congenital Amaurosis 1
Hyperthreoninemia, Sensorineural hearing impairment, Optic disc drusen, Attenuation of retinal bl... OMIM:204000
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemi... OMIM:144300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
RCAD (renal cysts and diabetes)
Diabetes mellitus DECIPHER:47
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia OMIM:608898
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... ORPHA:181393
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... ORPHA:69076
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... OMIM:615703
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... ORPHA:324575
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Cataract, Hypocalcemic seizures, Hypocalcemia, Irritability OMIM:146200
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytos... OMIM:603552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, N... OMIM:245900
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-resis... OMIM:604367
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Estrogen Resistance
Elevated alkaline phosphatase of bone origin, Increased serum estradiol, Hyperinsulinemia, Impair... OMIM:615363
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance OMIM:617885
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Elevated hepatic transaminase, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect... ORPHA:79085
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Eye poking, Fundus atrophy, Ke... OMIM:204100
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... ORPHA:552
Autoimmune Hypoparathyroidism
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Cataract, Hypocalcemic seizures,... ORPHA:36913
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment, Splenomegaly ORPHA:172
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Anemia, Retinal calcification, Transient hypophosphatemia, Developmental catar... OMIM:127000
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:615158
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... ORPHA:435651
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Increased circulating... OMIM:613101
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... OMIM:206200
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Steatorrhea, D... OMIM:615558
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Intermediate Osteopetrosis
Anemia, Optic atrophy from cranial nerve compression, Cranial nerve compression, Hepatosplenomega... ORPHA:210110
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hypertriglyceridemia, Sensorineural hearing impairment, Elevated circulating crea... OMIM:610717
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Hypertriglyceridemia OMIM:618010
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc... OMIM:619658
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Albers-Schönberg Osteopetrosis
Anemia, Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology, Hearing impairment, Facial palsy ORPHA:53
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71526
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Sensorineural hearing impairment, Retinopathy, Angioid streaks ... OMIM:239000
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Congenital sensorin... OMIM:617872
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Eye poking, Chorioretinal atrophy, Keratoconus, Macular colob... OMIM:613835
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Cataract, Hypocalcemia OMIM:612462
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, I... ORPHA:231111
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adi... OMIM:151660
Linear Verrucous Nevus Syndrome
Retinopathy, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypop... ORPHA:2611
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Retinal calcification, Developmental cataract, Hy... ORPHA:93325
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... OMIM:300635
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... ORPHA:276556
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Mandibuloacral Dysplasia
Hyperinsulinemia, Contractures of the large joints, Increased circulating free fatty acid level, ... ORPHA:2457
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Mental deterioration OMIM:615924
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance OMIM:610947
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia, Hearing impairment OMIM:614207
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia OMIM:607250
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cognitive impairment, Hyperphosphatemia, Cataract OMIM:103580
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... OMIM:613845
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... OMIM:616828
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Increased C-peptide level, Hyperinsulinemia, Adipose ti... ORPHA:528
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Anemia, Optic atrophy, Pancytopenia, Thrombocytopenia, Facial paralysis, Hypocalcem... OMIM:259700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Cognitive impairment, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea ni... OMIM:235400
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi... OMIM:267700
Smith-Magenis Syndrome
Head-banging, EEG abnormality, Self-mutilation, Abnormal heart morphology, Hypercholesterolemia, ... OMIM:182290
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Anxiety, Abnormal autonomic nervous system physiology, Hyperkal... ORPHA:94093
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, Hy... ORPHA:90362
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Sitosterolemia 1
Reduced haptoglobin level, Stomatocytosis, Anemia, Corneal arcus, Giant platelets, Reticulocytosi... OMIM:210250
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... OMIM:207750
Cole Disease
Hyperglycemia OMIM:615522
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess ORPHA:89937
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Sensorineural hearing impairment, Recurrent cutaneous abscess formation, ... ORPHA:47
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Increased blood urea nitrogen, Episodic hemolytic ane... ORPHA:251004
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Cataract, Hypocalcem... ORPHA:94089
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Decreased... OMIM:205400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, ... ORPHA:293964
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... ORPHA:75234
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Elevated tissue non-specific alkaline... ORPHA:785
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Hyperphosphatemia, Angioid streaks of the fundus, Calcin... OMIM:211900
Lcat Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating... ORPHA:650
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation, Cataract, Keratoconus, Heari... ORPHA:65
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormality of re... ORPHA:791
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Brittle Cornea Syndrome 1
Keratoglobus, Mitral valve prolapse, Abnormal cornea morphology, Decreased corneal thickness, Ker... OMIM:229200
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase OMIM:615453
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Neonatal h... ORPHA:263455
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Galactokinase Deficiency
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Psy... ORPHA:79237
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Sanjad-Sakati Syndrome
Hyperphosphatemia, External ear malformation, Astigmatism, Corneal opacity, Low-set, posteriorly ... ORPHA:2323
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, Diabetic ketoacidosis... ORPHA:2298
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot OMIM:601005
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Microtriplication 11Q24.1
Hyperlipidemia, Attached earlobe, Keratoconus, Hearing impairment, Posteriorly rotated ears ORPHA:289522
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Low-set ears, Hypocalcemia, Posteriorly rotated ears OMIM:241410
Osteopetrosis, Autosomal Recessive 5
Anemia, Optic atrophy, Mydriasis, Hyperbilirubinemia, Irritability, Pancytopenia, Hepatosplenomeg... OMIM:259720
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired glucose to... ORPHA:2088
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Brittle Cornea Syndrome
Keratoglobus, Conductive hearing impairment, Sensorineural hearing impairment, Corneal erosion, C... ORPHA:90354
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Optic atrophy, Emotional lability, Anxiety, Hypocalcemia, Hypomagnesemia ORPHA:428
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Insulin resistance OMIM:615980
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, ... ORPHA:69663
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... OMIM:615381
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... OMIM:620058
Temple Syndrome
Flexion contracture, Precocious puberty, Small for gestational age, Obesity, Maturity-onset diabe... OMIM:616222
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Microcytic anemia, Underdeveloped superior crus of antihelix, Con... ORPHA:293967
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... ORPHA:158061
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Cataract, Hypocalcemia, Hypomagnesemia OMIM:175500
Rh Deficiency Syndrome
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Mpi-Cdg
Hypothyroidism, Abnormal circulating enzyme concentration or activity, Hyperinsulinemic hypoglyce... ORPHA:79319
Oculoskeletodental Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Developmental cataract, Hypercal... ORPHA:557003
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance ORPHA:75563
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Pancreatic islet-cell hyperplas... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Chylomicron Retention Disease
Retinopathy, Steatorrhea, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis ORPHA:71
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Hemochromatosis, Type 3
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... OMIM:604250
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Dementia, Elevated circulating creatine kinase concentration, Hypercholeste... OMIM:208920
Propionic Acidemia
Hypoglycemia, Propionyl-CoA carboxylase deficiency ORPHA:35
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia OMIM:177000
Isotretinoin-Like Syndrome
Conotruncal defect, Anotia, Microtia, Bicuspid aortic valve, Lymphopenia, Aplasia/Hypoplasia of t... ORPHA:2306
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Irritability, Pancytopenia, Hepatosplenomegaly, In... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Sensorineural hearing impairment, Abnormal pinna morphology, Retinal detach... OMIM:607143
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Ring Chromosome 10 Syndrome
Abnormal antihelix morphology, Aganglionic megacolon, Large earlobe, Low-set ears, Hypocalcemia ORPHA:1438
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Rhabdoid Tumor
Thrombocytopenia, Irritability, Hypercalcemia, Anemia ORPHA:69077
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Microvesi... OMIM:605814
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Hyperlipoproteinemia, Type I
Lipemia retinalis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, In... OMIM:238600
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Irritabil... ORPHA:848
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Cognitive impairment, Hearing impairment ORPHA:457059
Chédiak-Higashi Syndrome
Pericardial effusion, Iris hypopigmentation, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, ... ORPHA:167
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia ORPHA:254531
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Pseudohypoparathyroidism Type 1C
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Cataract, Hypocalcem... ORPHA:79444
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... ORPHA:26793
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Werner Syndrome
Retinal degeneration, Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hypophosphatasia
Anemia, Irritability, Hypercalcemia ORPHA:436
Cockayne Syndrome Type 1
Conjunctivitis, Pigmentary retinopathy, Anemia, Macrotia, Abnormality of peripheral nerve conduct... ORPHA:90321
Arthrogryposis, Distal, Type 5
Keratoglobus, Retinal fold, Abnormality of retinal pigmentation, Astigmatism, Keratoconus, Protru... OMIM:108145
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Abnormal aud... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Abnormal aud... ORPHA:529799
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Lymphopenia, Mental deterioration, Hypertriglyceridemia, Hypoal... OMIM:617575
Placental Insufficiency
Insulin resistance ORPHA:439167
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance ORPHA:363400
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Irritability, Hypercholesterolemia ORPHA:263501
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Pearson Syndrome
Pigmentary retinopathy, Splenomegaly, Hyperalaninemia, Anemia, Hypophosphatemia, Hypokalemia, Cor... ORPHA:699
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Dent Disease 2
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration OMIM:300555
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Macrotia, Posteriorly rotated ears, Facial palsy OMIM:606407
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Sensorineural hearing impairment, Decreased circulating ceruloplasmin concentrati... OMIM:242150
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Sensorineural hearing impairment, Anxiety... ORPHA:79443
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Cognitive impairment, Suicidal ideation, Hypercholesterolemia, Memory impairment ORPHA:77296
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Aceruloplasminemia
Anemia, Aceruloplasminemia, Retinal degeneration, Decreased serum iron, Dementia, Increased circu... OMIM:604290
Familial Isolated Hypoparathyroidism
Hypocalcemia, Cataract ORPHA:2238
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Retic... OMIM:618278
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Hyperphosphatemia, Hearing impairment, Optic atrophy OMIM:101800
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment OMIM:241520
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hype... OMIM:616267
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia ORPHA:664
Oculoskeletodental Syndrome
Developmental cataract, Hearing impairment, Hypercalcemia, Hypocalcemia, Splenomegaly OMIM:618440
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Chronic hepatic failure, Diabetes mellitus, Testicular atrophy, Hypogonadotropic ... ORPHA:465508
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatine kinase concentration, In... ORPHA:36234
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... ORPHA:158048
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... ORPHA:86816
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Cal... OMIM:248370
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse, Cataract ORPHA:1563
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Macrotia, Conductive hearing impairment, Cranial nerve compression, Optic atr... ORPHA:2785
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Left ventricular hypertrophy, Progressive neurologic deterioration, Leukocy... ORPHA:90065
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Hyperkalemia, Elevated creatine kin... ORPHA:423
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone... OMIM:201400
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Smith-Magenis Syndrome
Conductive hearing impairment, Self-injurious behavior, EEG abnormality, Anxiety, Microcornea, Hy... ORPHA:819
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Citrullinemia Type Ii
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... ORPHA:247585
Laron Syndrome
Hypercholesterolemia, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Tangier Disease
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Facial dipleg... ORPHA:31150
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Griscelli Syndrome Type 1
Iris hypopigmentation, Retinopathy, Hyperlipidemia ORPHA:79476
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Cognitive impairment, Optic atrophy, Mental deterioration OMIM:618476
Velocardiofacial Syndrome
Aggressive behavior, Posterior embryotoxon, Ventricular septal defect, Retinal vascular tortuosit... OMIM:192430
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Sensorineural hearing impairment, Neutropenia, Increased circulating ferritin concentrati... ORPHA:540
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Familial Chylomicronemia Syndrome
Abnormal emotion/affect behavior, Lipemia retinalis, Perianal abscess, Dementia, Hepatosplenomega... ORPHA:444490
Adamantinoma
Hypercalcemia ORPHA:55881
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Short term memory i... OMIM:277460
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairme... ORPHA:98907
Short Syndrome
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Cartilage-Hair Hypoplasia
Anemia, Macrotia, Cognitive impairment, EEG abnormality, Abnormal cardiac septum morphology, Agan... ORPHA:175
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... ORPHA:209902
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Abnormality of cart... ORPHA:3426
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemia, Hypomagnese... OMIM:618183
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Left ventricular hypertrophy, Pigmentary retinopathy, Cardiomyopathy ORPHA:746
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Hypocalcemia, Aniridia OMIM:602361
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Lipemia retinalis, Hyperlipoproteinemia, Decreased HDL c... OMIM:615947
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Chorioretinal coloboma ORPHA:1116
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Dysbetalipoproteinemia
Hypercholesterolemia, Hypothyroidism, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancre... ORPHA:412
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Celiac Disease, Susceptibility To, 1
Steatorrhea, Thrombocytosis, Macrocytic anemia, Anxiety, Iron deficiency anemia, Hypocalcemia OMIM:212750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato... ORPHA:37042
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Hypokalemia, Cataract, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... ORPHA:251380
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hyperinsulinemic ... ORPHA:71212
Non-Functioning Paraganglioma
Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Hypercalcemia, Hype... ORPHA:94080
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Hypercholesterolemia, Familial, 2