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Gene: Terf2ip MGI:1929871

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Gene Summary

Name:
telomeric repeat binding factor 2, interacting protein
Synonyms:
Rap1

Order Alleles

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
scaly skin Terf2ipem1(IMPC)Mbp HOM Early adult 0.00
decreased red blood cell distribution width Terf2ipem1(IMPC)Mbp HOM   Early adult 8.30×10-05
impaired glucose tolerance Terf2ipem1(IMPC)Mbp HOM   Early adult 8.55×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Terf2ip mutations

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

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

The table below shows human diseases associated to Terf2ip by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Melanoma
Dry skin ORPHA:618

The table below shows human diseases predicted to be associated to Terf2ip by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hirsutism, Redu... OMIM:612526
Peeling Skin Syndrome 5
Scaling skin, Epidermal acanthosis OMIM:617115
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hypercholesterolemia, Obesity, Type II diabetes mellitus, Insulin resistanc... OMIM:615703
Obesity And Hypopigmentation
Hyperinsulinemia, Red hair, Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Peeling Skin Syndrome 3
White scaling skin, Erythema OMIM:616265
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Lipodystrophy, Abdominal obesity, Insulin resistance, Diabetes mellitus, Hepatic ... OMIM:615980
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Generalized hirsutism, Hepatic steatosis ORPHA:79087
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from upper limbs... OMIM:608709
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Precocious puberty in femal... ORPHA:528
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Epidermolytic Hyperkeratosis 1
Scaling skin, Epidermal acanthosis OMIM:113800
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous... OMIM:151660
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Dry skin, Erythema ORPHA:530838
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Hepatomegaly, Reduc... ORPHA:363400
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ... OMIM:615238
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Low anterior hairline, Dorsocervical fat pad, Hyperinsulinemi... OMIM:616033
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Re... OMIM:620357
Psoriasis 2
Scaling skin, Epidermal acanthosis OMIM:602723
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Loss... ORPHA:79083
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Cutis laxa, Epidermal acanthosis, Dry skin ORPHA:2269
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Panniculitis, Generalized lipodystrophy, Hepat... ORPHA:79086
Aicardi-Goutieres Syndrome 5
Scaling skin, Thrombocytopenia, Dry skin OMIM:612952
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Type II diabetes mellitus, Splenomegaly, D... OMIM:616860
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Acanthocytosis, White scaling skin OMIM:604777
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis OMIM:607936
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Peeling Skin Syndrome 6
Scaling skin, Dry skin OMIM:618084
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... ORPHA:263455
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance ORPHA:199276
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema OMIM:617526
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:608594
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... ORPHA:79237
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Erythema OMIM:620148
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:619048
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Premature grayi... ORPHA:280365
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... ORPHA:2298
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Alopecia, Macronodular adrenal hyperplasia, Hirsutism, ... ORPHA:189427
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tis... OMIM:248370
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, Precocious puberty, ... OMIM:616222
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Obesity, Hypogonadism ORPHA:85274
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... OMIM:613327
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Elevated circulating hepatic transamin... OMIM:269700
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow OMIM:309585
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:616511
Ichthyosis With Erythrokeratoderma
Scaling skin, Epidermal acanthosis, Erythema OMIM:620507
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
X-Linked Sideroblastic Anemia
Pallor, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Sp... ORPHA:631
Hypotrichosis Simplex Of The Scalp
Scaling skin, Epidermal acanthosis ORPHA:90368
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Pallor, Abnormal erythro... ORPHA:98870
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Bazex Syndrome
Scaling skin, Anemia ORPHA:166113
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Peeling Skin Syndrome 1
Scaling skin, Eosinophilia OMIM:270300
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology ORPHA:79147
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Sparse hair, Weight loss, Insu... ORPHA:3163
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hepatic steato... OMIM:616829
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Epidermal acanthosis, Dry skin OMIM:612281
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Hirsutism, Camptodactyly, Failure to thrive, Flexion contracture, Knee... OMIM:214150
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Intellectual Developmental Disorder, X-Linked 91
Obesity, Low posterior hairline OMIM:300577
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Red hair, Decreased... OMIM:609734
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism, Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes ... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Tall stature, Abno... ORPHA:785
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low posterior hairline, Failure to thrive, Low anterior hairline, Hypogonadism, Insulin resistanc... ORPHA:73272
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomega... OMIM:606367
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Dry skin, Erythema OMIM:614457
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Leukocytosis, Eosinophilia, Neutrophilia, Skin vesicle, Acantholysis, Neut... ORPHA:293173
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis, Acantholysis, Dry skin OMIM:616295
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hirsutism, Hypothyroidism, Obesity, Abnormality of the thyro... ORPHA:77296
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Erythema OMIM:607602
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroid adenoma ORPHA:210548
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Sparse body hair, Obesity, Type II diabetes mellitus, Abnormality of the thyro... ORPHA:2234
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619386
Aromatase Deficiency
Tall stature, Hyperlipidemia, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, General... ORPHA:91
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Increa... OMIM:278000
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Truncal obesity, Hypogonadism ORPHA:261483
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... ORPHA:254516
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep... ORPHA:209902
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Hirsutism, Elevated circulating growth hormone concentration, Insulin-resista... ORPHA:90301
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Obesity, Synophrys ORPHA:300305
Rabson-Mendenhall Syndrome
Premature graying of hair, Increased serum testosterone level, Fasting hypoglycemia, Thick hair, ... ORPHA:769
Cutaneous Mastocytoma
Scaling skin, Erythema ORPHA:79455
Werner Syndrome
Lipoatrophy, Premature graying of hair, Thyroid carcinoma, Sparse scalp hair, White forelock, Sle... ORPHA:902
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis, Reduced muscle carnitin... OMIM:212140
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Bathing Suit Ichthyosis
Scaling skin, Epidermal acanthosis ORPHA:100976
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesit... OMIM:615812
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Hepatomegaly, Acute pancreatitis, Hypothyroidism, Obesity, Hep... ORPHA:412
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Thrombocytopenia, Lymphopenia, Granulocytopenia ORPHA:454831
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f... OMIM:602579
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Elastosis Perforans Serpiginosa
Cutis laxa, Epidermal acanthosis ORPHA:79148
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-po... ORPHA:169154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Nail dystrophy, Generalized lipodystrophy, Abnormal hair morphology, Hyperlipide... ORPHA:90154
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Psoriasiform lesion ORPHA:284426
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Pemphigus Foliaceus
Scaling skin, Skin vesicle, Acantholysis, Erythema ORPHA:79481
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Synophrys, Long eyelashes, Obesity, Thick eyebrow ORPHA:480907
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema ORPHA:79100
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Truncal obesity, Precocious puberty, Obesity, Hypercholeste... ORPHA:96184
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Hirsutism, Alopecia OMIM:604931
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest... ORPHA:633
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, El... OMIM:203800
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,... OMIM:605911
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogon... ORPHA:2183
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism OMIM:615996
Monosomy 13Q34
Horizontal eyebrow, Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Recon Progeroid Syndrome
Scaling skin, Thrombocytopenia, Anemia, Dry skin OMIM:620370
Diffuse Cutaneous Mastocytosis
Scaling skin, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Ichthyosis With Confetti
Scaling skin OMIM:609165
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Facial hypertrichosis, Decreased body weigh... ORPHA:508
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Rafiq Syndrome
Broad eyebrow, Highly arched eyebrow, Long eyebrows, Sparse lateral eyebrow, Sparse eyebrow, Obes... OMIM:614202
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Psoriasiform lesion, Pancytopenia, Decreased proportion of class-swi... OMIM:614700
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Dominant Beta-Thalassemia
Skin ulcer, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean corpuscul... ORPHA:231226
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Hyperlipidemia, Acute pancreatitis, Decreased body weight, Failur... ORPHA:444490
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Mal De Meleda
Epidermal acanthosis, Erythema ORPHA:87503
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Decreased body weight, Sparse scalp hair, Synophrys, Reduced subcutaneous ... OMIM:270450
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Congenital hypothyroidism, Obesity, Diabetes mellitus, Fair hair OMIM:614613
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicular hepatic ste... OMIM:600649
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism,... ORPHA:10
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyroidism, Impaired se... OMIM:614450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Congenital Analbuminemia
Hyperlipidemia, Obesity, Lipodystrophy, Hypercholesterolemia, Small for gestational age ORPHA:86816
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Dry skin OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Dry skin OMIM:618373
Biemond Syndrome Type 2
Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Low posterior hairline, Hypogonadism ORPHA:2233
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Obesity, Type II diabetes mellitus OMIM:618620
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Splenomegaly... OMIM:261750
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Low posterior hairline, Synophrys, Thick eyebrow, Truncal obesity ORPHA:2429
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Elevated circulat... OMIM:617093
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Hypothyroidism, Sparse hair, Insulin resistance, Diabetes mellitus, Truncal obesity OMIM:616541
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:444002
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Atypical Werner Syndrome
Hypertriglyceridemia, Delayed puberty, Lipoatrophy, Premature graying of hair, White forelock, Hy... ORPHA:79474
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:201450
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Bardet-Biedl Syndrome 1
Hirsutism, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Hypogonadism, Abdo... OMIM:209900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Hip contracture, Obesity, Truncal ob... OMIM:618363
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti... ORPHA:1501
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Hypopigmentation of hair ORPHA:70472
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv... OMIM:616263
Morm Syndrome
Truncal obesity ORPHA:75858
Acrokeratosis Verruciformis
Epidermal acanthosis, Acantholysis OMIM:101900
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Smal... OMIM:300869
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Horizontal eyebrow, Obesity, Synophrys, Congenital hypothyroidism ORPHA:352530
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure to thrive... OMIM:609069
Wilson-Turner Syndrome
Thick eyebrow, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Absent eyelashes, Hyperlipidemia, Abnormal eyebrow morphology, Flexion contractur... ORPHA:90153
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity OMIM:612463
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Hypopigmentation of hair ORPHA:177910
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circu... OMIM:603471
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Synophrys, Hypothyroidism, Precocious puberty, Obesity, Generalized hirsutism, Ar... ORPHA:254346
Trisomy 5P
Obesity ORPHA:1742
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Brittle hair, Failure to thrive, Disproportionate ta... OMIM:236200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Neonatal hypoglycemia ORPHA:35173
Pituitary Adenoma 4, Acth-Secreting
Hirsutism, Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obesity, Increased c... OMIM:219090
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Immunodeficiency 61
Obesity OMIM:300310
Mpdu1-Cdg
Scaling skin ORPHA:79323
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Microtriplication 11Q24.1
Hyperlipidemia, Synophrys, Long eyelashes, Obesity, Thick eyebrow ORPHA:289522
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Hepatic stea... OMIM:201475
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Erythema OMIM:613943
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Chung-Jansen Syndrome
Obesity, Thick eyebrow, Synophrys OMIM:617991
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... ORPHA:71
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Schaaf-Yang Syndrome
Camptodactyly, Obesity, Thick eyebrow, Flexion contracture, Hypogonadism, Failure to thrive in in... OMIM:615547
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Abnormal mast cell morphology ORPHA:398189
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Familial Benign Chronic Pemphigus
Skin vesicle, Acantholysis, Erythema ORPHA:2841
Congenital Syphilis
Palmoplantar scaling skin, Purpura, Anemia, Petechiae, Hepatosplenomegaly, Thrombocytopenia, Hypo... ORPHA:499009
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow ORPHA:261229
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Camptodactyly, Failure to ... ORPHA:79322
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, High ante... ORPHA:94065
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Baralle-Macken Syndrome
Obesity, Hirsutism OMIM:619255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Bloom Syndrome
Patchy alopecia, Sparse eyelashes, Adipose tissue loss, Abdominal obesity, Insulin resistance, Di... ORPHA:125
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hirsutism, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, J... OMIM:175700
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Inguinal hernia, Cholestasis, Portal hypertension, Flexio... ORPHA:440713
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Acantholysis, Palmoplantar erythema OMIM:605676
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Failure to thri... ORPHA:99901
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:212138
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atrophy, P... ORPHA:465508
Citrullinemia Type Ii
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Panc... ORPHA:247585
Whipple Disease
Hepatomegaly, Cachexia, Hypothyroidism, Splenomegaly, Insulin resistance ORPHA:3452
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bacterial Toxic-Shock Syndrome
Scaling skin, Increased circulating myelocyte count, Thrombocytopenia, Ecchymosis, Increased circ... ORPHA:36234
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis ORPHA:2199
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Graft Versus Host Disease
Scaling skin, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... OMIM:210740
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Truncal obesity, Flexion contracture of digit, Reduced subcutaneous adipose tiss... ORPHA:3041
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity, Long eyelashes, Broad lateral eyebrow OMIM:608624
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Basan Syndrome
Epidermal acanthosis OMIM:129200
Proteus Syndrome
Epidermal acanthosis, Splenomegaly OMIM:176920
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis, Obesity, Hypogonadism OMIM:616629
48,Xxxy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes melli... ORPHA:96263
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Singleton-Merten Syndrome 2
Psoriasiform lesion OMIM:616298
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615453
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis OMIM:231680
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism ORPHA:3409
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... OMIM:605814
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Low anterior hairline, Hypogonadism,... OMIM:300882
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Erythema ORPHA:83453
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:608836
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema OMIM:617525
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Hypopigmentation of hair ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Clark-Baraitser Syndrome
Obesity OMIM:617752
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Sparse hair, Umbilical hernia, Truncal o... ORPHA:284180
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Camptodactyly ORPHA:412035
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Sheehan Syndrome
Central diabetes insipidus, Breast hypoplasia, Reduced circulating prolactin concentration, Pitui... ORPHA:91355
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Hi... ORPHA:247768
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Hypopigmentation of hair, Central hypothyroidism, Abse... ORPHA:398079
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe... OMIM:618160
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentrat... ORPHA:298
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Hashimoto thyroidit... ORPHA:358
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Obesity, Male hypogonadism, Wrist flexion contracture OMIM:300055
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Granulomatosis ORPHA:38
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Abnormality of the hairline, Facial hypertrichosis, Polysplenia OMIM:610543
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminot... OMIM:227810
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Enamel hypoplasia, Hypo... OMIM:103580
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:171829
Joubert Syndrome 10
Obesity, Hirsutism, Decreased body weight OMIM:300804
Immunodeficiency 58
Scaling skin, Psoriasiform lesion OMIM:618131
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity, Long eyelashes OMIM:618089
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion ORPHA:163525
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia, Increased intramyocellular lipid droplets ORPHA:681
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:614300
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced circulating... ORPHA:2235
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... OMIM:610198
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Alopeci... ORPHA:3464
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma... ORPHA:79259
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly, Coarse hair OMIM:605309
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, F... ORPHA:99885
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Thick eyebrow, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Narcolepsy Type 1
Precocious puberty, Obesity ORPHA:2073
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Chronic hepatic failure, Failure to th... ORPHA:746
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Synophrys, Precocious puberty, Hypothyroidism, Obesity, Fa... ORPHA:819
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Thick eyebrow, Obesity ORPHA:85325
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Synophrys OMIM:613192
Joubert Syndrome 37
Obesity, Hepatomegaly, Sparse hair OMIM:619185
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Cushing Disease
Increased urinary cortisol level, Hirsutism, Impaired glucose tolerance, Sparse scalp hair, Incre... ORPHA:96253
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of the hypothal... ORPHA:3157
Wagr Syndrome
Obesity ORPHA:893
Perrault Syndrome 4
Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre... OMIM:615300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Achilles tendon contracture OMIM:615418
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemi... ORPHA:2126
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Rat-Bite Fever
Scaling skin, Anemia ORPHA:31205
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Scaling skin, Facial erythema, Dry skin ORPHA:1010
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
Myoectodermal Gonadal Dysgenesis Syndrome
Scaling skin, Dry skin, Accessory spleen OMIM:618419
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis OMIM:616069
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Psoriasis 14, Pustular
Epidermal acanthosis, Neutrophilia, Leukocytosis, Erythema OMIM:614204
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Alopecia OMIM:275630
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow OMIM:600430
Gaisböck Syndrome
Hypertriglyceridemia, Increased circulating renin level, Overweight, Obesity, Diabetes mellitus, ... ORPHA:90041
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity OMIM:619269
Retinitis Pigmentosa 51
Obesity OMIM:613464
Radio-Tartaglia Syndrome
High anterior hairline, Highly arched eyebrow, Hirsutism, Long eyebrows, Long eyelashes, Precocio... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Synophrys, Precocious puberty, Obesity, Hepatosplenomegaly, Umbilic... OMIM:301066
Cole Disease
Epidermal acanthosis, Hyperglycemia OMIM:615522
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Medial flaring of the eyebrow, Impaired fa... ORPHA:110
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Laurence-Moon Syndrome
Obesity OMIM:245800
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Kid Syndrome
Scaling skin, Epidermal acanthosis ORPHA:477
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Sparse scalp hair, Sparse eyebrow, Obesit... ORPHA:1001
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Flexion... ORPHA:17
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Woolly Hair-Skin Fragility Syndrome
Acantholysis OMIM:620415
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Thick eyebrow, Hypogonadism, Sparse hair, Truncal obesity ORPHA:127
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic calcification, Hepatic steatosis,... ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Elbow hypertrichosis, Long eyelashes OMIM:620191
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Cachexia, Synophrys, Camptodactyly of finger, Obesity, Abnormal hair pattern, Hy... ORPHA:85293
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Skin ulcer, Dry skin, Leukemia ORPHA:2526
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Synophrys, Long eyelashes, Obesity, Fine hair OMIM:620250
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Epidermal acanthosis, Dry skin, Splenomegaly, Hypereosinophilia OMIM:617388
Ataxia-Oculomotor Apraxia 4
Obesity, Hypercholesterolemia OMIM:616267
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Hypopigmentation of hair, Increased body weight, Centr... ORPHA:398069
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... ORPHA:275761
Riddle Syndrome
Scaling skin, Erythema ORPHA:420741
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Nail dystrophy, Generalized lipodystrophy, Elevated circulating hepatic tra... OMIM:619127
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Failure to thrive, Obesity, Sparse hair OMIM:616364
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... ORPHA:20
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Erythema ORPHA:294023
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
Carpenter Syndrome 1
Camptodactyly, Omphalocele, Precocious puberty, Obesity, Umbilical hernia, Polysplenia, Joint con... OMIM:201000
Pearson Syndrome
Steatorrhea, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Elevated ... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ... OMIM:619525
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature, Camptodactyly OMIM:301039
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis ORPHA:79151
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular... OMIM:220110
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Olmsted Syndrome, X-Linked
Epidermal acanthosis OMIM:300918
Huriez Syndrome
Epidermal acanthosis OMIM:181600
Adiposis Dolorosa
Hypothyroidism, Obesity, Sparse pubic hair, Sparse axillary hair ORPHA:36397
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Highly arched eyebrow, Femoral hernia, Synophrys, Failure to thrive, Obesity ORPHA:96147
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Abdominal obesity, Hypogonadism OMIM:300354
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Glyco... OMIM:229600
Man1B1-Cdg
Abnormal position of hair whorl, Long eyebrows, Long eyelashes, Sparse eyebrow, Truncal obesity ORPHA:397941
Megalencephaly
Truncal obesity ORPHA:2477
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema ORPHA:455
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Shox-Related Short Stature
Obesity ORPHA:314795
Distal 16P11.2 Microdeletion Syndrome
Obesity, Low anterior hairline ORPHA:261222
Bloom Syndrome
Small for gestational age, Hepatic steatosis, Type II diabetes mellitus, Hypertrichosis OMIM:210900
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hep... ORPHA:66634
Luscan-Lumish Syndrome
High anterior hairline, Hirsutism, Overgrowth, Obesity OMIM:616831
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Congenital Myopathy 9A
Obesity OMIM:618822
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Hirsutism, Low posterior hairline, Long eyelashes... OMIM:617303
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:93111
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Wilson Disease
Cirrhosis, Jaundice, Hypoparathyroidism, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma,... OMIM:277900
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity ORPHA:261197
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis OMIM:148700
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Liver Disease, Severe Congenital
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Spl... OMIM:619991
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia, Weight loss ORPHA:134
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Fail... OMIM:619377
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Hepatomegaly, Thick eyebrow, Synophrys OMIM:618443
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis OMIM:613102
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Severe failure to thrive, Loss of eyelashes, Pubertal developmental failu... ORPHA:740
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Biliary atresia, Elbow flexion contractur... ORPHA:96149
Down Syndrome
Delayed puberty, Umbilical hernia, Obesity, Type II diabetes mellitus, Hyperthyroidism, Sparse hair ORPHA:870
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Obesity ORPHA:251004
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Pancreatic hypoplasia, Aplasia... OMIM:600001
Ichthyosis Prematurity Syndrome
Epidermal acanthosis OMIM:608649
Ulnar-Mammary Syndrome
Delayed puberty, Breast aplasia, Hypoplastic nipples, Hernia of the abdominal wall, Camptodactyly... ORPHA:3138
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Decreased body weight, Enamel hypoplasia, Obesity, Thick eyebrow, Overwe... OMIM:619229
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Weight loss ORPHA:251071
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Precocious puberty, Enamel hypoplasia, Type II diabetes mellitus, Truncal obesity OMIM:210720
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Abetalipoproteinemia
Steatorrhea, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, He... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Kleefstra Syndrome
Highly arched eyebrow, Synophrys, Obesity, Hernia, Supernumerary nipple ORPHA:261494
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, ... ORPHA:116
Momo Syndrome
Large for gestational age, Tall stature, Overgrowth, Obesity ORPHA:2563
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Truncal obesity, Alopecia ORPHA:3224
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Facial erythema, Dry skin, Cutis laxa, Hepatosplenomegaly, Hemolytic anemia, Erythema OMIM:619503
Angelman Syndrome Due To A Point Mutation
Obesity, Hypopigmentation of hair ORPHA:411511
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Elevated circulating hepatic transaminase concentration, Obesity, Hypogonadism, Diabete... OMIM:614231
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Hepatomegaly ORPHA:163681
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Inguinal hernia, Sparse eyebrow, Obesity, Umbilical hernia, Reduced circulating growth hormone co... OMIM:620654
Bardet-Biedl Syndrome 17
Obesity, Hypogonadism OMIM:615994
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis OMIM:616029
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Male hypogonadism... OMIM:619471
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Sparse hair, Hepatic steatosis, Decreased response to growth h... ORPHA:3455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hypercho... ORPHA:247598
Rabin-Pappas Syndrome
Highly arched eyebrow, Failure to thrive in infancy, Obesity, Overgrowth OMIM:620155
Desbuquois Dysplasia 1
Obesity OMIM:251450
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Cohen Syndrome
Delayed puberty, Thick hair, Abnormal eyelash morphology, Long eyelashes, Obesity, Low anterior h... ORPHA:193
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o... OMIM:216550
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
White-Sutton Syndrome
Congenital diaphragmatic hernia, Obesity, Ventral hernia, Inguinal hernia ORPHA:468678
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Chops Syndrome
Thick hair, Synophrys, Long eyelashes, Curly hair, Obesity, Thick eyebrow, Splenomegaly, Coarse hair OMIM:616368
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis OMIM:242300
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... ORPHA:404454
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Flexion contracture, Abdominal obesity, Hepatic steatosis, Alopecia OMIM:619321
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Sparse hair OMIM:620601
Xylt1-Cdg
Hepatomegaly, Truncal obesity, Hirsutism, Synophrys ORPHA:370930
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Angelman Syndrome
Obesity, Fair hair OMIM:105830
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Anterior hypopituitarism, Obesity, Hypogonadotropic hypogonad... ORPHA:478
Kawasaki Disease
Scaling skin on fingertip, Palmoplantar erythema, Thrombocytosis, Leukocytosis ORPHA:2331
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Highly arched eyebrow, Microvesicular hepatic steatosis, Hirsutism, Failure to t... OMIM:220111
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Hypopigmentation of hair ORPHA:98794
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Generalized Pustular Psoriasis
Obesity, Overweight, Elevated circulating hepatic transaminase concentration ORPHA:247353
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
Kleefstra Syndrome 1
Obesity, Synophrys OMIM:610253
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin ORPHA:158668
Angelman Syndrome
Obesity, Delayed menarche, Precocious puberty in females, Fair hair ORPHA:72
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Epidermal acanthosis, Dry skin OMIM:618527
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotran... OMIM:619573
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Restrictive Dermopathy
Scaling skin, Dermal translucency ORPHA:1662
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Flexion contracture, Micronodular cirrhosis, ... OMIM:301072
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Diamond-Blackfan Anemia 21
Synophrys, Horizontal eyebrow, Obesity, Coarse hair, Widow's peak OMIM:620072
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Erythema OMIM:242100
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
Achondroplasia
Obesity ORPHA:15
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Dend Syndrome
Hyperglycemia ORPHA:79134
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Epidermal acanthosis, Neutrophilia, Splenomegaly OMIM:612852
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Facial hirsutism, Thick hair, Highly arche... ORPHA:444077
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Olmsted Syndrome 2
Epidermal acanthosis OMIM:619208
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis OMIM:615225
Carney Complex
Ductal carcinoma in situ, Thyroid carcinoma, Neoplasm of the pancreas, Increased circulating insu... ORPHA:1359
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Splenomegaly, Epidermal acanthosis, Dry skin OMIM:607626
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Restrictive Dermopathy 1
Scaling skin OMIM:275210
Digeorge Syndrome
Inguinal hernia, Cholelithiasis, Hypoplasia of the thymus, Femoral hernia, Hypothyroidism, Obesit... OMIM:188400
Ogden Syndrome
Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, Microvesicular he... OMIM:300855
1P36 Deletion Syndrome
Annular pancreas, Hypothyroidism, Camptodactyly of finger, Abnormal eyebrow morphology, Horizonta... ORPHA:1606
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Long eyelashes, Horizontal eyebrow, Obesity, Sp... ORPHA:96121
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Obesity, Supernumerary nipple, Inguinal hernia OMIM:618653
Kabuki Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Long eyelashes, Precocious puberty, Spars... ORPHA:2322
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Hypothyroidism, Splenomegaly, Weight loss, Hepatic steatosis OMIM:615846
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Broad eyebrow... OMIM:619475
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity ORPHA:319675
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion ORPHA:85436
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hypoglycemia, Hyperglycemia OMIM:620423
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Precocious puberty, Hypoparathyroidism, Obesity ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Sparse hair, Joint contracture of the 5th finger OMIM:619934
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hirsutism, Synophrys, Obesity, Thick eyebrow, Truncal obesity ORPHA:466950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:615356
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Fine hair, Truncal obesity, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Anterior pituita... ORPHA:177907
Wagro Syndrome
Obesity OMIM:612469
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Punctate Palmoplantar Keratoderma Type 1
Abnormal epidermal morphology, Epidermal acanthosis ORPHA:79501
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Dry skin, Perianal erythema OMIM:308205
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity, Hirsutism, Synophrys OMIM:616078
White-Kernohan Syndrome
Synophrys, Hypothyroidism, Horizontal eyebrow, Long eyelashes, Obesity, Thick eyebrow, Broad medi... OMIM:619426
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Precocious puberty, Failure to thrive, Spleno... OMIM:270400
Odontoonychodermal Dysplasia
Dry skin, Epidermal acanthosis, Palmoplantar erythema, Erythema OMIM:257980
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Failure to thrive, Thick eyebrow ORPHA:369950
Desbuquois Dysplasia 2
Truncal obesity, Synophrys OMIM:615777
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Cholelithiasis, Abnormal dental enamel morphology, Hypoplasi... ORPHA:567
Pseudoxanthoma Elasticum
Cutis laxa, Civatte bodies OMIM:264800
Adnp Syndrome
High anterior hairline, Inguinal hernia, Hirsutism, Sparse scalp hair, Umbilical hernia, Truncal ... ORPHA:404448
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion... OMIM:181450
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Sparse hair, Fine hair, Truncal obesity OMIM:222700
Myhre Syndrome
Camptodactyly, Obesity, Thick eyebrow, Sparse hair, Fine hair, Small for gestational age OMIM:139210
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High anterior hairline, Failure to thrive,... OMIM:615873
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Broad eyebrow, Accessory spleen, Facial hypertrichosis, Highly arched eyebrow... OMIM:180849
Williams-Beuren Syndrome
Premature graying of hair, Medial flaring of the eyebrow, Glucose intolerance, Inguinal hernia, P... OMIM:194050
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, High ante... OMIM:613406
Retinitis Pigmentosa 74
Obesity OMIM:616562
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Low posterior hairline, Hypothyroidism, Obesity, Increased circulating gonadotro... ORPHA:1772
Monosomy 22Q13.3
Obesity, Thick eyebrow, Long eyelashes, Umbilical hernia ORPHA:48652
Naxos Disease
Epidermal acanthosis, Acantholysis OMIM:601214
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
Primrose Syndrome
Delayed puberty, Dystrophic fingernails, Sparse scalp hair, Absent facial hair, Hypergonadotropic... OMIM:259050
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Synophrys ORPHA:466943
17Q24.2 Microdeletion Syndrome
Synophrys, Thick eyebrow, Failure to thrive in infancy, Truncal obesity, Pineal cyst ORPHA:529962
Carpenter Syndrome 2
Highly arched eyebrow, Hypoplastic nipples, Camptodactyly, Umbilical hernia, Sparse eyebrow, Obes... OMIM:614976
Williams Syndrome
Inguinal hernia, Cholelithiasis, Abnormal dental enamel morphology, Hypothyroidism, Precocious pu... ORPHA:904
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Failure to thrive, Obesity, Low anterior hairline ORPHA:75857
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Failure to thrive, Frontal hirsutism, Obesity, Sparse hair OMIM:617157
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperglycemia, Elevated circulating aspartate aminotransferase co... ORPHA:466677
Cornelia De Lange Syndrome
Delayed puberty, Congenital diaphragmatic hernia, Curly eyelashes, Highly arched eyebrow, Hypopla... ORPHA:199
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity, Keloids ORPHA:353281
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger, Horizontal eye... OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Trichiasis, Highly arched eyebrow, Corneal scarring, Failure to thrive, Obesity, Keloids ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Trichiasis, Highly arched eyebrow, Corneal scarring, Failure to thrive, Obesity, Keloids ORPHA:353277
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal acanthosis, Erythema OMIM:308050
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Long lower eyelashes, Highly arched eyebrow, Camptodactyly, Synophrys, Failure t... OMIM:612474
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Nail dystrophy, Peritonitis ORPHA:2968
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of 2nd-5th fingers, Sparse anteri... OMIM:601803
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Epidermal acanthosis, Severe B lymphocytopenia ORPHA:83617
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity, Hypogonadism OMIM:309580
Familial Melanoma
Dry skin ORPHA:618

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 Terf2ip

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 Terf2ip.

No publications found that use IMPC mice or data for Terf2ip.

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MGI Allele Allele Type Produced
Terf2ipem1(IMPC)Mbp Exon Deletion Mice, Tissue

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