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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
decreased red blood cell distribution width Terf2ipem1(IMPC)Mbp HOM   Early adult 6.74×10-05
impaired glucose tolerance Terf2ipem1(IMPC)Mbp HOM   Early adult 8.55×10-05
scaly skin Terf2ipem1(IMPC)Mbp HOM Early adult 0.00

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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 Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 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
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Peeling Skin Syndrome 5
Epidermal acanthosis, Scaling skin OMIM:617115
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hypercholesterolemi... OMIM:615703
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Overgrowth, Red hair, Hepatic steatosis OMIM:620195
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Abdominal obesity, Hepatic ... OMIM:615980
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy, Generalized hirsutism ORPHA:79087
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... ORPHA:528
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... OMIM:615631
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin OMIM:113800
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin ORPHA:530838
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Hyperinsuline... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... ORPHA:276575
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Psoriasis 2
Epidermal acanthosis, Scaling skin OMIM:602723
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... ORPHA:2348
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Increased m... OMIM:610717
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... OMIM:616860
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Acrokeratosis Verruciformis
Epidermal acanthosis OMIM:101900
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, White scaling skin, Acanthocytosis OMIM:604777
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Familial Reactive Perforating Collagenosis
Diabetes mellitus, Abnormal epidermal morphology ORPHA:79147
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Peeling Skin Syndrome 4
Epidermal acanthosis, Scaling skin OMIM:607936
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, Ta... ORPHA:2849
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth ORPHA:199276
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:608594
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Sparse body hair ORPHA:85274
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Epidermal acanthosis, Scaling skin, Cutis laxa ORPHA:2269
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... OMIM:300908
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
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, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Pallor, Anemia ORPHA:75563
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... ORPHA:98870
Bazex Syndrome
Scaling skin, Anemia ORPHA:166113
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... OMIM:269880
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Peeling Skin Syndrome 1
Eosinophilia, Scaling skin OMIM:270300
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... ORPHA:3163
Bathing Suit Ichthyosis
Palmoplantar scaling skin, Epidermal acanthosis, Scaling skin ORPHA:100976
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... ORPHA:369
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function OMIM:616829
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... ORPHA:785
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Epidermal acanthosis, Scaling skin OMIM:612281
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... OMIM:214150
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
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
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, I... OMIM:615830
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Centrifugal Lipodystrophy
Erythema, Scaling skin ORPHA:90156
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Low anterior hairline, Low posterior... ORPHA:73272
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypertriglycerid... OMIM:203800
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino... OMIM:617253
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Ichthyosis, Annular Epidermolytic, 1
Erythema, Scaling skin OMIM:607602
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Scaling skin OMIM:614457
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Scaling skin, Neutropenia, Skin vesicle, ... ORPHA:293173
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Epidermal acanthosis, Scaling skin, Acantholysis OMIM:616295
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... ORPHA:42
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Type II diabetes mellitus, Obesity ORPHA:3191
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma ORPHA:210548
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, ... OMIM:278000
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism, Sparse body hair ORPHA:261483
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Hirsutism, Elevated circulating growth h... ORPHA:90301
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Thick h... ORPHA:769
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
11P15.4 Microduplication Syndrome
Synophrys, Obesity, Highly arched eyebrow ORPHA:300305
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Increased sarcop... ORPHA:264580
Werner Syndrome
Sparse scalp hair, Lipoatrophy, Lipodystrophy, Abnormal hair whorl, Insulin resistance, Premature... ORPHA:902
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Cutaneous Mastocytoma
Erythema, Scaling skin ORPHA:79455
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy... ORPHA:90154
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... ORPHA:71212
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hypothyroidism, Obesit... ORPHA:412
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... ORPHA:209902
Acute Radiation Syndrome
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypog... OMIM:602579
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Scaling skin ORPHA:90368
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa ORPHA:79148
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Scaling skin ORPHA:284426
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit... ORPHA:169154
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... ORPHA:101330
Pemphigus Foliaceus
Skin vesicle, Erythema, Scaling skin, Acantholysis ORPHA:79481
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Synophrys, Obesity, Long eyelashes, Lipoma, Thick eyebrow ORPHA:480907
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema ORPHA:79100
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Summitt Syndrome
Obesity OMIM:272350
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, H... ORPHA:2959
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Obesity, Low posterior ha... ORPHA:2183
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Recon Progeroid Syndrome
Thrombocytopenia, Dry skin, Scaling skin, Anemia OMIM:620370
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Obesity OMIM:615996
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Ichthyosis With Confetti
Scaling skin OMIM:609165
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Scaling skin ORPHA:79456
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Obesity, Horizontal eyebrow ORPHA:96168
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Facial hypertrichosis, Insulin resistance, Hyp... ORPHA:508
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... OMIM:256810
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Rafiq Syndrome
Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Flexion contracture, Obesity, Truncal obesi... OMIM:614202
Mal De Meleda
Erythema, Epidermal acanthosis ORPHA:87503
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Diabetes mellitus, Lipodystrophy, Highly ... OMIM:270450
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity, Congenital hypothyroidism, Red hair, Fair hair OMIM:614613
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... OMIM:614700
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Hypercholesterolemia ORPHA:86816
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin OMIM:618373
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Type II diabetes mellitus, Obesity OMIM:618620
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Hypogonadism, Obesity, Low posterior hairline ORPHA:2233
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow ORPHA:2429
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Sparse hair, Hypothyroidism OMIM:616541
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... ORPHA:79474
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:444002
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... ORPHA:90153
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Synophrys, Horizontal eyebrow, Obesity, Congenital hypothyroidism ORPHA:352530
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Disproportionate tall stature, Failure to thrive, Hepatic steatosi... OMIM:236200
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hyperglycemia OMIM:604484
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hyperlipidemia, Synophrys, Obesity, Arthrogryposis multiplex ... ORPHA:254346
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... ORPHA:453533
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Trisomy 5P
Obesity ORPHA:1742
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Neonatal hypoglycemia ORPHA:35173
Mpdu1-Cdg
Scaling skin ORPHA:79323
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obes... ORPHA:98855
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis OMIM:613943
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... ORPHA:98908
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Chung-Jansen Syndrome
Synophrys, Obesity, Thick eyebrow OMIM:617991
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism, Thick eyebrow ORPHA:3459
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypop... OMIM:619013
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Hypogonadism, Camptodactyly, Arthrogr... OMIM:615547
Microtriplication 11Q24.1
Hyperlipidemia, Synophrys, Obesity, Long eyelashes, Thick eyebrow ORPHA:289522
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Abnormal epidermal morphology ORPHA:398189
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema, Acantholysis ORPHA:2841
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Morm Syndrome
Truncal obesity ORPHA:75858
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Knee flexion contracture, Hepatosplenomegaly, Hepati... ORPHA:79322
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow ORPHA:261229
Baralle-Macken Syndrome
Obesity, Hirsutism OMIM:619255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Sparse eyelashes, Adipose tissue loss, Insulin resi... ORPHA:125
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... ORPHA:465508
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obes... ORPHA:98863
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obes... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obes... ORPHA:98853
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar erythema, Palmoplantar scaling skin, Acantholysis OMIM:605676
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Failure to thrive,... ORPHA:99901
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... ORPHA:247585
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Scaling skin, Ecchymosis, Increased circulating metamyeloc... ORPHA:36234
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Graft Versus Host Disease
Hemophagocytosis, Scaling skin, Hepatosplenomegaly ORPHA:39812
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis ORPHA:2199
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Singleton-Merten Syndrome 2
Psoriasiform lesion OMIM:616298
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... ORPHA:541423
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, H... OMIM:212065
Prader-Willi Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:176270
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Frontal balding, Early balding, Truncal obesity, Hypogonadis... ORPHA:3041
Proteus Syndrome
Splenomegaly, Epidermal acanthosis OMIM:176920
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... ORPHA:98907
Basan Syndrome
Epidermal acanthosis OMIM:129200
Immunodeficiency 61
Obesity OMIM:300310
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... ORPHA:348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Increased circulating fre... ORPHA:26793
Cole Disease
Hyperglycemia, Epidermal acanthosis OMIM:615522
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... OMIM:605814
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Long eyelashes, Obesity, Neonatal hypoglycemia OMIM:608624
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Urban-Rogers-Meyer Syndrome
Hypogonadism, Flexion contracture of toe, Camptodactyly of finger, Obesity ORPHA:3409
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive OMIM:615453
Vulvovaginal Gingival Syndrome
Erythema, Epidermal acanthosis ORPHA:83453
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis OMIM:617525
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Synophrys, Low anterior hairline, Truncal obesity, Hypogonadism, Long eyel... OMIM:300882
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Splenome... ORPHA:79240
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis ORPHA:977
Clark-Baraitser Syndrome
Obesity OMIM:617752
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Obesity ORPHA:411515
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Sparse hair, Umbilical hernia, High anterior ha... ORPHA:284180
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, Increased serum testosteron... ORPHA:247768
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Parathyroid adenoma, Glucose int... ORPHA:358
Acrokeratoelastoidosis Of Costa
Granulomatosis, Epidermal acanthosis ORPHA:38
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Polysplenia, Facial hypertrichosis, Failure to thrive, Abnormality of the hairline OMIM:610543
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... ORPHA:298
Down Syndrome
Obesity, Type II diabetes mellitus, Sparse hair, Umbilical hernia, Hypothyroidism ORPHA:870
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:98754
Immunodeficiency 58
Psoriasiform lesion, Scaling skin OMIM:618131
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:171829
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Obesity, Tall stature OMIM:618089
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion ORPHA:163525
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... OMIM:610198
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:177904
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, In... ORPHA:3464
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to... ORPHA:177901
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Hyperlipidem... ORPHA:79259
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic... ORPHA:746
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Coarse hair, Overgrowth OMIM:605309
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,... OMIM:617156
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
X-Linked Intellectual Disability, Stevenson Type
Thick eyebrow, Obesity, Tall stature ORPHA:85325
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Obesity, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis, ... ORPHA:110
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Synophrys, Obesity, Delay... ORPHA:819
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic st... OMIM:124000
Tatton-Brown-Rahman Syndrome
Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm, Thick eyebrow ORPHA:404443
Joubert Syndrome 37
Sparse hair, Hepatomegaly, Obesity OMIM:619185
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Synophrys OMIM:613192
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ... ORPHA:96253
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive ORPHA:436271
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Scaling skin, Facial erythema ORPHA:1010
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the hypothalamus-pituit... ORPHA:3157
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets ORPHA:681
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Wagr Syndrome
Obesity ORPHA:893
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Dry skin, Scaling skin OMIM:618419
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis OMIM:616069
Rat-Bite Fever
Scaling skin, Anemia ORPHA:31205
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Erythema, Epidermal acanthosis OMIM:614204
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity ORPHA:464288
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Increased circulating... ORPHA:90041
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow OMIM:600430
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... OMIM:613658
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... OMIM:277900
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Cholecyst... OMIM:301066
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Obesity OMIM:616267
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Synophrys, Low anterior ... OMIM:619312
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:881
Kid Syndrome
Epidermal acanthosis, Scaling skin ORPHA:477
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Laurence-Moon Syndrome
Obesity OMIM:245800
Retinitis Pigmentosa 51
Obesity OMIM:613464
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Increased intramy... ORPHA:17
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus OMIM:619269
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity, Hypogonadism, Sparse hair, Camptodactyly of toe, Thick eyebrow ORPHA:127
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Epidermal acanthosis, Splenomegaly, Hypereosinophilia, Dry skin OMIM:617388
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hypoketo... ORPHA:228308
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Synophrys, Obesity, Hy... ORPHA:85293
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Obesity, Fine hair, Long eyelashes, Overgrowth OMIM:620250
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity ORPHA:439822
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Long eyelashes, Obesity OMIM:620191
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Sparse eyebrow, Flexion contra... OMIM:619127
Riddle Syndrome
Erythema, Scaling skin ORPHA:420741
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Precocio... ORPHA:398069
2Q37 Microdeletion Syndrome
Sparse scalp hair, Highly arched eyebrow, Congenital diaphragmatic hernia, Sparse eyebrow, Supern... ORPHA:1001
White-Sutton Syndrome
Congenital diaphragmatic hernia, Obesity, Hypoglycemic seizures, Sparse hair, Failure to thrive OMIM:616364
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Scaling skin ORPHA:294023
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Failure to t... ORPHA:275761
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Pancreatic fi... ORPHA:699
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... OMIM:220110
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint con... OMIM:201000
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis OMIM:613102
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... OMIM:229600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Adiposis Dolorosa
Sparse pubic hair, Hypothyroidism, Obesity, Sparse axillary hair ORPHA:36397
Olmsted Syndrome, X-Linked
Epidermal acanthosis OMIM:300918
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Huriez Syndrome
Epidermal acanthosis OMIM:181600
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes ORPHA:397941
Megalencephaly
Truncal obesity ORPHA:2477
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Highly arched eyebrow, Synophrys, Obesity, Failure to thrive ORPHA:96147
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... ORPHA:273
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypogly... ORPHA:66634
Distal 16P11.2 Microdeletion Syndrome
Low anterior hairline, Obesity ORPHA:261222
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis ORPHA:455
Bloom Syndrome
Small for gestational age, Hepatic steatosis, Type II diabetes mellitus, Hypertrichosis OMIM:210900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Luscan-Lumish Syndrome
High anterior hairline, Overgrowth, Obesity, Hirsutism OMIM:616831
Shox-Related Short Stature
Obesity ORPHA:314795
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Congenital Myopathy 9A
Obesity OMIM:618822
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, Low posterior ... OMIM:617303
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis OMIM:148700
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... OMIM:619991
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Synophrys, Obesity, Thick eyebrow OMIM:618443
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Acantholysis ORPHA:79151
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Pituitary ... ORPHA:96149
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Delayed puberty ORPHA:251004
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat... OMIM:600001
Ulnar-Mammary Syndrome
Camptodactyly of finger, Obesity, Breast aplasia, Hypoplastic nipples, Absent axillary hair, Hern... ORPHA:3138
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Den Hoed-De Boer-Voisin Syndrome
Overweight, Widow's peak, Obesity, Decreased body weight, Enamel hypoplasia, Thick eyebrow, Amelo... OMIM:619229
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypoplasia OMIM:210720
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Ichthyosis Prematurity Syndrome
Epidermal acanthosis OMIM:608649
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Steator... ORPHA:14
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Tall stature... ORPHA:116
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Synophrys, Obesity, Hernia ORPHA:261494
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Obesity ORPHA:411511
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Erythema, Cutis laxa, Facial erythema, Hepatosplenomegaly, Scaling skin, Dry skin OMIM:619503
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Hepatomegaly, Obesity ORPHA:163681
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Birth... OMIM:300868
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... ORPHA:247598
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis OMIM:619471
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism OMIM:614231
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hepatic steatosis,... ORPHA:3455
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Rabin-Pappas Syndrome
Highly arched eyebrow, Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Desbuquois Dysplasia 1
Obesity OMIM:251450
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis OMIM:616029
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Delayed puberty... OMIM:216550
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Low anterior hairline, Obe... ORPHA:193
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis OMIM:242300
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis OMIM:619321
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Chops Syndrome
Curly hair, Thick hair, Splenomegaly, Synophrys, Obesity, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Xylt1-Cdg
Hepatomegaly, Synophrys, Truncal obesity, Hirsutism ORPHA:370930
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, N... ORPHA:404454
Angelman Syndrome
Fair hair, Obesity OMIM:105830
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... ORPHA:293987
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D... ORPHA:478
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Obesity ORPHA:98794
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Highly arched eyebrow, Increased hepato... OMIM:220111
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Obesity ORPHA:247353
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin ORPHA:158668
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Epidermal acanthosis OMIM:618527
Kleefstra Syndrome 1
Synophrys, Obesity OMIM:610253
Angelman Syndrome
Delayed menarche, Fair hair, Precocious puberty in females, Obesity ORPHA:72
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Restrictive Dermopathy
Scaling skin, Dermal translucency ORPHA:1662
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... ORPHA:79318
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Epidermal acanthosis OMIM:242100
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow OMIM:620072
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Olmsted Syndrome 2
Epidermal acanthosis OMIM:619208
Achondroplasia
Obesity ORPHA:15
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis OMIM:615225
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Epidermal acanthosis OMIM:612852
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Splenomegaly, Dry skin, Epidermal acanthosis OMIM:607626
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Carney Complex
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... ORPHA:1359
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Thick h... ORPHA:444077
Restrictive Dermopathy 1
Scaling skin OMIM:275210
Dend Syndrome
Hyperglycemia ORPHA:79134
7Q11.23 Microduplication Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Sparse anterior scalp hair, Obesity, Long eyela... ORPHA:96121
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating p... OMIM:188400
Ogden Syndrome
Inguinal hernia, Maternal diabetes, Sparse eyebrow, Microvesicular hepatic steatosis, Jaundice, F... OMIM:300855
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, ... ORPHA:1606
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Inguinal hernia, Obesity, Highly arched eyebrow OMIM:618653
Kabuki Syndrome
Highly arched eyebrow, Congenital diaphragmatic hernia, Precocious puberty, Obesity, Long eyelash... ORPHA:2322
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Broad eyebrow, Overweight, Jaundice, Synophrys, Obesity, Decreased... OMIM:619475
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity ORPHA:319675
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion ORPHA:85436
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Dry skin, Perianal erythema, Scaling skin OMIM:308205
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Obesity ORPHA:369837
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis OMIM:615846
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Synophrys, Hirsutism, Obesity, Truncal obesity, Thick eyebrow ORPHA:466950
Punctate Palmoplantar Keratoderma Type 1
Abnormal epidermal morphology, Epidermal acanthosis ORPHA:79501
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... ORPHA:177907
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Wagro Syndrome
Obesity OMIM:612469
White-Kernohan Syndrome
Synophrys, Broad medial eyebrow, Obesity, Long eyelashes, Horizontal eyebrow, Hypothyroidism, Thi... OMIM:619426
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Odontoonychodermal Dysplasia
Palmoplantar erythema, Erythema, Dry skin, Epidermal acanthosis OMIM:257980
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Precocious puberty, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hypocholest... OMIM:270400
Intellectual Developmental Disorder, Autosomal Dominant 29
Synophrys, Obesity, Hirsutism OMIM:616078
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Splenome... ORPHA:567
Desbuquois Dysplasia 2
Truncal obesity, Synophrys OMIM:615777
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Abnormality of the pineal gland, Obesity, Thick eyebrow ORPHA:369950
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sparse axillary hair... OMIM:181450
Adnp Syndrome
Sparse scalp hair, Inguinal hernia, Truncal obesity, Umbilical hernia, High anterior hairline, Hi... ORPHA:404448
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Fine hair, Truncal obesity, Sparse hair, Failure to thrive, Pancreatitis OMIM:222700
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, ... OMIM:194050
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Myhre Syndrome
Small for gestational age, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow OMIM:139210
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, Truncal obesity, Hig... OMIM:615873
Rubinstein-Taybi Syndrome 1
Accessory spleen, Broad eyebrow, Thick eyebrow, Small for gestational age, Premature thelarche, F... OMIM:180849
Retinitis Pigmentosa 74
Obesity OMIM:616562
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Low posterior hairline, Delayed ... ORPHA:1772
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Small for gestational age, Decreased response to ... OMIM:613406
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Naxos Disease
Epidermal acanthosis, Acantholysis OMIM:601214
Primrose Syndrome
Hip contracture, Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent fac... OMIM:259050
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Synophrys, Obesity ORPHA:466943
Monosomy 22Q13.3
Umbilical hernia, Long eyelashes, Obesity, Thick eyebrow ORPHA:48652
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Synophrys, P... ORPHA:529962
Carpenter Syndrome 2
Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Low anterior hairline, Obesity, Knee... OMIM:614976
Williams Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Abnormal dental enamel morphology, Failure to thr... ORPHA:904
6Q Terminal Deletion Syndrome
Failure to thrive, Low anterior hairline, Obesity, Highly arched eyebrow ORPHA:75857
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive OMIM:617157
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hy... ORPHA:466677
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Curly eyelashes, Highly arched eyebrow, Synophrys, Low anterior ... ORPHA:199
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Synophrys, Obesity, Congenital hypothyroidism, Horizontal eyebrow, Campt... OMIM:607872
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Epidermal acanthosis OMIM:308050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Obesity, Corneal scarring, Keloids, Failure to thrive ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Obesity, Corneal scarring, Keloids, Failure to thrive ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Frontal balding, Synophrys, Truncal obesity, Long lower eyelashes, Camptod... OMIM:612474
Leukocyte Adhesion Deficiency
Peritonitis, Nail dystrophy, Hyperinsulinemic hypoglycemia ORPHA:2968
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Severe B lymphocytopenia, Epidermal acanthosis ORPHA:83617
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Pallister-Killian Syndrome
Omphalocele, Sparse scalp hair, Inguinal hernia, Alopecia, Sparse eyelashes, Congenital diaphragm... OMIM:601803
Familial Melanoma
Dry skin ORPHA:618
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity OMIM:309580

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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