Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 predicted to be associated to Ptpn13 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein | Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... | OMIM:308220 | |
Monocyte Chemotactic Disorder | Cutaneous anergy, Chronic mucocutaneous candidiasis | OMIM:252250 | |
Immunodeficiency 18 | Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... | OMIM:615615 | |
Maturity-Onset Diabetes Of The Young, Type 11 | Obesity, Overweight | OMIM:613375 | |
Triglyceride Storage Disease, Type Ii | Obesity | OMIM:190430 | |
Bardet-Biedl Syndrome 14 | Obesity | OMIM:615991 | |
Obesity | Increased waist to hip ratio, Obesity | OMIM:601665 | |
Retinal Telangiectasia And Hypogammaglobulinemia | Reduced delayed hypersensitivity, Decreased circulating IgG level | OMIM:267900 | |
Candidiasis, Familial, 1 | Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis | OMIM:114580 | |
Immunodeficiency, Common Variable, 5 | Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... | OMIM:613495 | |
Spermatogenic Failure, X-Linked, 1 | Obesity | OMIM:305700 | |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes | Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level | OMIM:242870 | |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy | Large for gestational age, Truncal obesity | OMIM:240900 | |
Immunodeficiency With Hyper-Igm, Type 2 | Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... | OMIM:605258 | |
Immunodeficiency 24 | Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... | OMIM:615897 | |
Immunodeficiency, Common Variable, 4 | Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... | OMIM:613494 | |
Immunodeficiency 35 | Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... | OMIM:611521 | |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome | Childhood-onset truncal obesity, Truncal obesity | OMIM:610156 | |
Prader-Willi syndrome (Type 1) | Truncal obesity | DECIPHER:14 | |
Prader-Willi Syndrome (Type 2) | Truncal obesity | DECIPHER:53 | |
Macrosomia Adiposa Congenita | Large for gestational age, Obesity, Eosinophilia | OMIM:248100 | |
Abdominal Obesity-Metabolic Syndrome 1 | Abdominal obesity | OMIM:605552 | |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 | Abdominal obesity | OMIM:605572 | |
Agammaglobulinemia 3, Autosomal Recessive | Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... | OMIM:613501 | |
Bardet-Biedl Syndrome 11 | Obesity | OMIM:615988 | |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome | Obesity | ORPHA:1078 | |
Immunodeficiency With Hyper-Igm, Type 3 | Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... | OMIM:606843 | |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 | Abdominal obesity, Truncal obesity | OMIM:618160 | |
Immunodeficiency With Hyper-Igm, Type 5 | Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... | OMIM:608106 | |
Bardet-Biedl Syndrome 13 | Obesity | OMIM:615990 | |
Bardet-Biedl Syndrome 12 | Obesity | OMIM:615989 | |
Immunodeficiency, Common Variable, 3 | Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... | OMIM:613493 | |
Intellectual Developmental Disorder, X-Linked 97 | Obesity | OMIM:300803 | |
Narcolepsy Type 1 | Obesity | ORPHA:2073 | |
Agammaglobulinemia 2, Autosomal Recessive | Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... | OMIM:613500 | |
Bardet-Biedl Syndrome 18 | Obesity | OMIM:615995 | |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy | Large for gestational age, Truncal obesity | ORPHA:293964 | |
Summitt Syndrome | Obesity | OMIM:272350 | |
Reticular Dysgenesis | Lack of T cell function, Sepsis, Impaired T cell function | OMIM:267500 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type | Obesity | OMIM:309585 | |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome | Obesity | ORPHA:436141 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 | Obesity | OMIM:619058 | |
Agammaglobulinemia 4, Autosomal Recessive | Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... | OMIM:613502 | |
Bardet-Biedl Syndrome 10 | Obesity | OMIM:615987 | |
Carcinoma Of Esophagus | Obesity, Weight loss | ORPHA:70482 | |
Caspase 8 Deficiency | Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... | OMIM:607271 | |
Spongiform Encephalopathy With Neuropsychiatric Features | Gliosis | OMIM:606688 | |
Immunodeficiency, Common Variable, 1 | Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... | OMIM:607594 | |
Immunodeficiency, Common Variable, 2 | Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... | OMIM:240500 | |
Prader-Willi Habitus, Osteopenia, And Camptodactyly | Obesity | OMIM:264010 | |
Bardet-Biedl Syndrome 5 | Obesity | OMIM:615983 | |
Adenocarcinoma Of The Esophagus | Obesity | ORPHA:99976 | |
Halothane Hepatitis | Obesity, Eosinophilia | OMIM:234350 | |
Wiskott-Aldrich Syndrome 2 | Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections | OMIM:614493 | |
Syndromic X-Linked Intellectual Disability 7 | Obesity | ORPHA:85274 | |
Body Mass Index Quantitative Trait Locus 20 | Obesity, Tall stature | OMIM:618406 | |
Agammaglobulinemia 6, Autosomal Recessive | Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... | OMIM:612692 | |
Cortisone Reductase Deficiency 2 | Obesity | OMIM:614662 | |
Mental Retardation, X-Linked 91 | Obesity | OMIM:300577 | |
Short Stature Due To Primary Acid-Labile Subunit Deficiency | Truncal obesity | ORPHA:140941 | |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency | Obesity | ORPHA:171706 | |
Immunodeficiency 61 | Obesity | OMIM:300310 | |
Hernández-Aguirre Negrete Syndrome | Obesity | ORPHA:2139 | |
Ankylosing Vertebral Hyperostosis With Tylosis | Obesity | ORPHA:2206 | |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies | Truncal obesity | OMIM:300471 | |
Griscelli Syndrome, Type 2 | Recurrent bacterial infections, Reduced delayed hypersensitivity | OMIM:607624 | |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | Decreased specific anti-polysaccharide antibody level, Decreased CD69 upregulation upon TCR activ... | OMIM:300853 | |
Obesity Due To Melanocortin 4 Receptor Deficiency | Obesity, Childhood-onset truncal obesity | ORPHA:71529 | |
Hyperostosis Frontalis Interna | Obesity | OMIM:144800 | |
Bardet-Biedl Syndrome 19 | Obesity | OMIM:615996 | |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome | Obesity | ORPHA:3055 | |
Bare Lymphocyte Syndrome, Type Ii | Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... | OMIM:209920 | |
Microduplication Xp11.22P11.23 Syndrome | Obesity | ORPHA:217377 | |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency | Lack of T cell function, Recurrent upper respiratory tract infections, Recurrent opportunistic in... | ORPHA:277 | |
Combined Oxidative Phosphorylation Deficiency 15 | Obesity | OMIM:614947 | |
Adiposis Dolorosa | Obesity | OMIM:103200 | |
11P15.4 Microduplication Syndrome | Obesity | ORPHA:300305 | |
Bardet-Biedl Syndrome 22 | Large for gestational age, Obesity | OMIM:617119 | |
Central Precocious Puberty | Increased body weight, Obesity, Overgrowth | ORPHA:759 | |
Bardet-Biedl Syndrome 16 | Obesity | OMIM:615993 | |
Immune Deficiency Disease | Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections | OMIM:242850 | |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features | Obesity, Failure to thrive in infancy | OMIM:613670 | |
Prolactin Deficiency With Obesity And Enlarged Testes | Obesity | OMIM:264120 | |
Xq27.3Q28 Duplication Syndrome | Failure to thrive, Truncal obesity | ORPHA:261483 | |
Obesity, Hyperphagia, And Developmental Delay | Obesity | OMIM:613886 | |
Morm Syndrome | Truncal obesity | ORPHA:75858 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Obesity | ORPHA:88643 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | Obesity | ORPHA:329249 | |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures | Obesity | OMIM:616756 | |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers | Obesity | ORPHA:276630 | |
Polycystic Ovary Syndrome 1 | Obesity | OMIM:184700 | |
Bardet-Biedl Syndrome 7 | Obesity | OMIM:615984 | |
Cortisone Reductase Deficiency 1 | Obesity | OMIM:604931 | |
Obesity Due To Prohormone Convertase I Deficiency | Failure to thrive, Childhood-onset truncal obesity, Obesity | ORPHA:71528 | |
Obesity Due To Pro-Opiomelanocortin Deficiency | Failure to thrive, Childhood-onset truncal obesity, Obesity | ORPHA:71526 | |
Immunodeficiency 96 | Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... | OMIM:619774 | |
Trisomy 5P | Obesity | ORPHA:1742 | |
Immunodeficiency By Defective Expression Of Mhc Class Ii | Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent pro... | ORPHA:572 | |
Nephronophthisis 15 | Obesity | OMIM:614845 | |
Retinal Dystrophy And Obesity | Obesity | OMIM:616188 | |
Obesity-Hypoventilation Syndrome | Obesity | OMIM:257500 | |
Morbid Obesity And Spermatogenic Failure | Obesity | OMIM:615703 | |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures | Obesity | OMIM:618725 | |
Macrocephaly/Autism Syndrome | Obesity, Lymphopenia, Splenomegaly | OMIM:605309 | |
Mehmo Syndrome | Obesity, Small for gestational age | OMIM:300148 | |
Bardet-Biedl Syndrome 4 | Obesity | OMIM:615982 | |
Short Stature-Obesity Syndrome | Obesity | OMIM:269870 | |
Biemond Syndrome Type 2 | Obesity | ORPHA:141333 | |
Immunodeficiency With Hyper-Igm, Type 1 | Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... | OMIM:308230 | |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis | Obesity, Truncal obesity | OMIM:618363 | |
11Q22.2Q22.3 Microdeletion Syndrome | Obesity | ORPHA:444002 | |
Chromosome Xq21 Deletion Syndrome | Obesity | OMIM:303110 | |
Bardet-Biedl Syndrome 8 | Obesity | OMIM:615985 | |
Borjeson-Forssman-Lehmann Syndrome | Obesity | OMIM:301900 | |
Immunodeficiency 67 | Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... | OMIM:607676 | |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome | Obesity | ORPHA:521390 | |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells | Cutaneous anergy | OMIM:183350 | |
Fryns Macrocephaly | Truncal obesity | OMIM:600302 | |
Hypogonadotropic Hypogonadism 27 Without Anosmia | Obesity | OMIM:619755 | |
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies | Obesity | OMIM:606772 | |
Leptin Deficiency Or Dysfunction | Obesity | OMIM:614962 | |
Mehmo Syndrome | Obesity | ORPHA:85282 | |
Summitt Syndrome | Obesity, Tall stature | ORPHA:3210 | |
Bardet-Biedl Syndrome 21 | Obesity, Overweight | OMIM:617406 | |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 | Obesity | OMIM:300238 | |
Immunodeficiency 81 | Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... | OMIM:619374 | |
Coenzyme Q10 Deficiency, Primary, 2 | Obesity | OMIM:614651 | |
Bardet-Biedl Syndrome 2 | Obesity | OMIM:615981 | |
Temple Syndrome | Overweight, Truncal obesity, Small for gestational age | OMIM:616222 | |
Obesity Due To Sim1 Deficiency | Obesity | ORPHA:369873 | |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair | Obesity | OMIM:609734 | |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome | Truncal obesity | ORPHA:85280 | |
Growth Hormone Insensitivity Syndrome | Failure to thrive, Truncal obesity | ORPHA:181393 | |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome | Truncal obesity | ORPHA:2429 | |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome | Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... | OMIM:617241 | |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome | Obesity | ORPHA:2233 | |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency | Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... | ORPHA:35078 | |
Chung-Jansen Syndrome | Obesity | OMIM:617991 | |
Baralle-Macken Syndrome | Obesity | OMIM:619255 | |
Intellectual Developmental Disorder, Autosomal Dominant 39 | Obesity | OMIM:616521 | |
Retinopathy, Pigmentary, And Mental Retardation | Truncal obesity | OMIM:268050 | |
Wilson-Turner Syndrome | Truncal obesity | ORPHA:3459 | |
Prader-Willi Syndrome Due To Imprinting Mutation | Obesity | ORPHA:177910 | |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome | Obesity | ORPHA:352530 | |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development | Obesity | OMIM:618124 | |
Pseudopseudohypoparathyroidism | Obesity | ORPHA:79445 | |
Simpson-Golabi-Behmel Syndrome, Type 2 | Obesity | OMIM:300209 | |
Hydrocephalus-Obesity-Hypogonadism Syndrome | Obesity | ORPHA:2183 | |
Ataxia-Oculomotor Apraxia Type 4 | Obesity | ORPHA:459033 | |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative | Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... | OMIM:600802 | |
Bardet-Biedl Syndrome 3 | Obesity | OMIM:600151 | |
Atkin-Flaitz Syndrome | Obesity | ORPHA:1193 | |
Clark-Baraitser Syndrome | Obesity | OMIM:617752 | |
Retinitis Pigmentosa | Obesity | ORPHA:791 | |
Rafiq Syndrome | Obesity, Truncal obesity | OMIM:614202 | |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion | Obesity | ORPHA:254525 | |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome | Obesity | ORPHA:397973 | |
Laurence-Moon Syndrome | Obesity | ORPHA:2377 | |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome | Obesity | ORPHA:480907 | |
Wagr Syndrome | Obesity | ORPHA:893 | |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome | Truncal obesity | ORPHA:2928 | |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly | Obesity | OMIM:615633 | |
X-Linked Intellectual Disability, Shashi Type | Obesity | ORPHA:85286 | |
Pseudohypoparathyroidism, Type Ib | Obesity | OMIM:603233 | |
Clark-Baraitser syndrome | Obesity, Tall stature | OMIM:300602 | |
Temple Syndrome | Obesity, Small for gestational age | ORPHA:254516 | |
Purine Nucleoside Phosphorylase Deficiency | Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial infections, Impair... | OMIM:613179 | |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 | Obesity | ORPHA:411515 | |
X-Linked Intellectual Disability, Stevenson Type | Obesity, Tall stature | ORPHA:85325 | |
Bardet-Biedl Syndrome 9 | Obesity, Truncal obesity | OMIM:615986 | |
Microtriplication 11Q24.1 | Obesity | ORPHA:289522 | |
Beta-Mercaptolactate Cysteine Disulfiduria | Obesity | ORPHA:1035 | |
Spastic Paraplegia 11, Autosomal Recessive | Obesity | OMIM:604360 | |
6Q16 Microdeletion Syndrome | Obesity | ORPHA:171829 | |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome | Obesity, Eunuchoid habitus | ORPHA:2234 | |
Pseudopseudohypoparathyroidism | Obesity | OMIM:612463 | |
Narcolepsy 7 | Obesity | OMIM:614250 | |
Atkin-Flaitz Syndrome | Obesity, Tall stature | OMIM:300431 | |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures | Obesity | OMIM:618822 | |
Body Mass Index Quantitative Trait Locus 19 | Obesity | OMIM:617885 | |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities | Obesity | OMIM:619854 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Obesity | OMIM:601794 | |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome | Obesity | ORPHA:3085 | |
Thymic Aplasia | Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren... | ORPHA:83471 | |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation | Obesity | ORPHA:254531 | |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome | Obesity | ORPHA:464282 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Obesity | ORPHA:363741 | |
Intellectual Developmental Disorder, Autosomal Recessive 13 | Truncal obesity | OMIM:613192 | |
Idiopathic Intracranial Hypertension | Obesity | ORPHA:238624 | |
Chromosome Xq27.3-Q28 Duplication Syndrome | Abdominal obesity, Small for gestational age | OMIM:300869 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Obesity | OMIM:610628 | |
Chromosome 16P13.3 Deletion Syndrome, Proximal | Failure to thrive, Polysplenia, Obesity | OMIM:610543 | |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 | Obesity, Truncal obesity, Small for gestational age | ORPHA:96184 | |
Rhizomelic Limb Shortening With Dysmorphic Features | Obesity | OMIM:618821 | |
Megalencephaly | Truncal obesity | ORPHA:2477 | |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome | Obesity | ORPHA:171839 | |
Combined Oxidative Phosphorylation Deficiency 54 | Obesity | OMIM:619737 | |
Leptin Receptor Deficiency | Obesity | OMIM:614963 | |
Autoimmune Lymphoproliferative Syndrome | Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... | OMIM:601859 | |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome | Obesity | ORPHA:3077 | |
Chromosome 3Q29 Duplication Syndrome | Obesity | OMIM:611936 | |
T-Cell Immunodeficiency With Thymic Aplasia | Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensitivity, Recurrent pneu... | OMIM:242700 | |
48,Xxyy Syndrome | Obesity, Tall stature | ORPHA:10 | |
Adult Acute Respiratory Distress Syndrome | Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... | ORPHA:70578 | |
Intellectual Developmental Disorder, X-Linked 107 | Obesity | OMIM:301013 | |
Abdominal Obesity-Metabolic Syndrome 3 | Abdominal obesity, Truncal obesity | OMIM:615812 | |
Shox-Related Short Stature | Obesity | ORPHA:314795 | |
Acute Lung Injury | Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... | ORPHA:178320 | |
Schaaf-Yang Syndrome | Obesity, Failure to thrive in infancy | OMIM:615547 | |
Carpenter Syndrome | Obesity, Polysplenia | ORPHA:65759 | |
Obesity Due To Congenital Leptin Deficiency | Obesity, Decreased proportion of CD4-positive helper T cells | ORPHA:66628 | |
Acrodysostosis 2 With Or Without Hormone Resistance | Obesity | OMIM:614613 | |
Proprotein Convertase 1/3 Deficiency | Obesity | OMIM:600955 | |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome | Obesity | ORPHA:464288 | |
Cornelia De Lange Syndrome 5 | Truncal obesity | OMIM:300882 | |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly | Obesity, Splenomegaly | OMIM:615630 | |
Intellectual Developmental Disorder, X-Linked 12 | Increased body mass index, Truncal obesity, Small for gestational age | OMIM:300957 | |
Senior-Loken Syndrome 9 | Obesity | OMIM:616629 | |
Obesity Due To Leptin Receptor Gene Deficiency | Obesity, Decreased proportion of CD4-positive helper T cells | ORPHA:179494 | |
X-Linked Intellectual Disability, Hedera Type | Obesity | ORPHA:93952 | |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures | Obesity | OMIM:617157 | |
Chromosome 2Q37 Deletion Syndrome | Obesity | OMIM:600430 | |
Subaortic Stenosis-Short Stature Syndrome | Obesity | ORPHA:3191 | |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities | Obesity, Tall stature | OMIM:618430 | |
Acth-Independent Macronodular Adrenal Hyperplasia 2 | Abdominal obesity, Increased body weight | OMIM:615954 | |
Urban-Rogers-Meyer Syndrome | Obesity | ORPHA:3409 | |
Bardet-Biedl Syndrome 6 | Obesity | OMIM:605231 | |
X-Linked Non-Syndromic Intellectual Disability | Obesity, Small for gestational age | ORPHA:777 | |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies | Obesity | OMIM:619056 | |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome | Obesity | ORPHA:2180 | |
Abdominal Obesity-Metabolic Syndrome 4 | Elevated hemoglobin A1c, Obesity | OMIM:618620 | |
Lipodystrophy, Familial Partial, Type 6 | Abdominal obesity | OMIM:615980 | |
13Q12.3 Microdeletion Syndrome | Failure to thrive, Obesity | ORPHA:412035 | |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type | Obesity | OMIM:600122 | |
Vici Syndrome | Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... | OMIM:242840 | |
15Q24 Microdeletion Syndrome | Failure to thrive, Obesity, Small for gestational age | ORPHA:94065 | |
Immunodeficiency 58 | Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decre... | OMIM:618131 | |
Joubert Syndrome 37 | Obesity | OMIM:619185 | |
Distal 16P11.2 Microdeletion Syndrome | Obesity | ORPHA:261222 | |
Momo Syndrome | Large for gestational age, Overgrowth, Obesity, Tall stature | ORPHA:2563 | |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 | Obesity | OMIM:300055 | |
Perrault Syndrome 4 | Obesity, Disproportionate tall stature | OMIM:615300 | |
Laron Syndrome | Truncal obesity | ORPHA:633 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type | Abdominal obesity | OMIM:300354 | |
Morgagni-Stewart-Morel Syndrome | Obesity | ORPHA:77296 | |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive | Obesity | OMIM:615418 | |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome | Obesity | OMIM:194072 | |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome | Truncal obesity | ORPHA:3041 | |
Tatton-Brown-Rahman Syndrome | Obesity, Myeloid leukemia, Proportionate tall stature | ORPHA:404443 | |
Low Phospholipid-Associated Cholelithiasis | Obesity, Overweight, Liver abscess | ORPHA:69663 | |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency | Failure to thrive, Truncal obesity, Small for gestational age | ORPHA:73272 | |
Mody | Large for gestational age, Elevated hemoglobin A1c, Overweight, Obesity | ORPHA:552 | |
Cntnap2-Related Developmental And Epileptic Encephalopathy | Abnormal neuron morphology, Obesity | ORPHA:163681 | |
Radio-Tartaglia Syndrome | Obesity | OMIM:619312 | |
Luscan-Lumish Syndrome | Obesity, Overgrowth | OMIM:616831 | |
Cohen Syndrome | Leukopenia, Small for gestational age, Childhood-onset truncal obesity, Neutropenia | OMIM:216550 | |
Smith-Magenis Syndrome | Obesity, Failure to thrive in infancy | ORPHA:819 | |
Desbuquois Dysplasia 1 | Obesity | OMIM:251450 | |
Pde4D Haploinsufficiency Syndrome | Obesity | ORPHA:439822 | |
Xp22.13P22.2 Duplication Syndrome | Truncal obesity | ORPHA:284180 | |
Man1B1-Cdg | Truncal obesity | ORPHA:397941 | |
Bardet-Biedl Syndrome 17 | Obesity | OMIM:615994 | |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 | Obesity | OMIM:618395 | |
Momo Syndrome | Obesity, Overgrowth | OMIM:157980 | |
Congenital Disorder Of Glycosylation, Type Iil | Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... | OMIM:614576 | |
Metaphyseal Chondrodysplasia, Schmid Type | Obesity | ORPHA:174 | |
Pseudohypoparathyroidism, Type Ic | Obesity | OMIM:612462 | |
Ring Chromosome Y Syndrome | Obesity | ORPHA:261529 | |
19P13.12 Microdeletion Syndrome | Obesity | ORPHA:254346 | |
Helsmoortel-Van Der Aa Syndrome | Obesity | OMIM:615873 | |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related | HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia | OMIM:141750 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type | Abdominal obesity, Disproportionate tall stature | OMIM:301039 | |
48,Xxxy Syndrome | Obesity, Tall stature | ORPHA:96263 | |
Joubert Syndrome 8 | Obesity | OMIM:612291 | |
Adiposis Dolorosa | Obesity | ORPHA:36397 | |
Angelman Syndrome Due To A Point Mutation | Obesity | ORPHA:411511 | |
Bdv Syndrome | Obesity | OMIM:619326 | |
Marbach-Schaaf Neurodevelopmental Syndrome | Obesity | OMIM:619680 | |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities | Obesity | OMIM:618443 | |
Müllerian Aplasia And Hyperandrogenism | Obesity | ORPHA:247768 | |
Pseudohypoparathyroidism, Type Ia | Obesity | OMIM:103580 | |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | Obesity | ORPHA:98855 | |
Autoimmune Lymphoproliferative Syndrome, Type Iia | Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... | OMIM:603909 | |
Silver-Russell Syndrome | Obesity, Failure to thrive in infancy, Cachexia | ORPHA:813 | |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome | Truncal obesity | ORPHA:3224 | |
Kennerknecht syndrome | Abdominal obesity | OMIM:600908 | |
Wiskott-Aldrich Syndrome, Autosomal Dominant | Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... | OMIM:600903 | |
Carpenter Syndrome 1 | Obesity, Polysplenia | OMIM:201000 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Obesity, Overweight, Small for gestational age | ORPHA:26793 | |
Down Syndrome | Obesity, Acute megakaryocytic leukemia | ORPHA:870 | |
X-Linked Emery-Dreifuss Muscular Dystrophy | Obesity | ORPHA:98863 | |
Emery-Dreifuss Muscular Dystrophy | Obesity | ORPHA:261 | |
Paternal Uniparental Disomy Of Chromosome 1 | Obesity, Episodic hemolytic anemia | ORPHA:251004 | |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy | Obesity | ORPHA:98853 | |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia | Obesity | OMIM:608624 | |
Pituitary Adenoma 4, Acth-Secreting | Abdominal obesity, Obesity | OMIM:219090 | |
Bardet-Biedl Syndrome | Obesity | ORPHA:110 | |
Wiskott-Aldrich Syndrome | Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... | OMIM:301000 | |
White-Sutton Syndrome | Failure to thrive, Obesity | OMIM:616364 | |
Angelman Syndrome | Obesity | OMIM:105830 | |
Insulin-Like Growth Factor I, Resistance To | Decreased body weight, Truncal obesity | OMIM:270450 | |
Kohlschutter-Tonz Syndrome-Like | Obesity, Decreased body weight, Overweight | OMIM:619229 | |
Borjeson-Forssman-Lehmann Syndrome | Truncal obesity | ORPHA:127 | |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity | Obesity | OMIM:617296 | |
Sim1-Related Prader-Willi-Like Syndrome | Abdominal obesity, Failure to thrive, Obesity | ORPHA:398079 | |
Peripartum Cardiomyopathy | Obesity, Anemia | ORPHA:563 | |
Proximal 16P11.2 Microdeletion Syndrome | Failure to thrive, Obesity | ORPHA:261197 | |
Kleefstra Syndrome Due To 9Q34 Microdeletion | Failure to thrive, Obesity | ORPHA:96147 | |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion | Obesity | ORPHA:98794 | |
X-Linked Intellectual Disability, Cabezas Type | Obesity, Cachexia | ORPHA:85293 | |
Achondroplasia | Obesity | ORPHA:15 | |
8P23.1 Microdeletion Syndrome | Obesity, Weight loss | ORPHA:251071 | |
2Q37 Microdeletion Syndrome | Obesity | ORPHA:1001 | |
Kleefstra Syndrome 1 | Obesity | OMIM:610253 | |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome | Obesity | ORPHA:2235 | |
Ectodermal Dysplasia And Immunodeficiency 2 | Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... | OMIM:612132 | |
Cohen Syndrome | Obesity, Failure to thrive in infancy, Neutropenia | ORPHA:193 | |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency | Obesity | ORPHA:209902 | |
Congenital Analbuminemia | Obesity, Small for gestational age | ORPHA:86816 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Obesity | OMIM:618493 | |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy | Obesity | ORPHA:457059 | |
Septo-Optic Dysplasia Spectrum | Obesity | ORPHA:3157 | |
Autosomal Recessive Spastic Paraplegia Type 11 | Obesity, Overweight | ORPHA:2822 | |
Short Stature, Microcephaly, And Endocrine Dysfunction | Anemia, Lymphopenia, Truncal obesity | OMIM:616541 | |
Monosomy 13Q34 | Obesity | ORPHA:96168 | |
Hereditary Orotic Aciduria | Impaired T cell function, Recurrent respiratory infections | ORPHA:30 | |
Acth-Independent Macronodular Adrenal Hyperplasia | Truncal obesity | OMIM:219080 | |
Bardet-Biedl Syndrome 1 | Abdominal obesity, Obesity, Truncal obesity | OMIM:209900 | |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome | Obesity | OMIM:612469 | |
Pigmented Nodular Adrenocortical Disease, Primary, 2 | Truncal obesity | OMIM:610475 | |
Prader-Willi Syndrome | Abdominal obesity, Obesity, Failure to thrive in infancy | OMIM:176270 | |
Gaisböck Syndrome | Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... | ORPHA:90041 | |
Angelman Syndrome | Obesity | ORPHA:72 | |
Kleefstra Syndrome | Obesity | ORPHA:261494 | |
Chops Syndrome | Obesity, Splenomegaly | OMIM:616368 | |
3Q29 Microduplication Syndrome | Obesity | ORPHA:251038 | |
Schimke Immuno-Osseous Dysplasia | Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function, Recurrent ... | ORPHA:1830 | |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy | Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... | OMIM:618213 | |
Acrodermatitis Enteropathica, Zinc-Deficiency Type | Recurrent candida infections, Impaired T cell function | OMIM:201100 | |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 | Failure to thrive, Obesity, Small for gestational age | ORPHA:98754 | |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion | Failure to thrive, Obesity, Small for gestational age | ORPHA:98793 | |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 | Failure to thrive, Obesity, Small for gestational age | ORPHA:177904 | |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 | Failure to thrive, Obesity, Small for gestational age | ORPHA:177901 | |
Microcephalic Primordial Dwarfism, Dauber Type | Obesity | ORPHA:319675 | |
White-Sutton Syndrome | Obesity | ORPHA:468678 | |
Prader-Willi-Like Syndrome | Failure to thrive, Obesity, Small for gestational age | ORPHA:398073 | |
Xylt1-Cdg | Truncal obesity | ORPHA:370930 | |
Lysinuric Protein Intolerance | Failure to thrive, Hemophagocytosis, Splenomegaly, Leukopenia, Truncal obesity, Anemia, Thrombocy... | OMIM:222700 | |
Bloom Syndrome | Abdominal obesity, Abnormal proportion of CD8-positive T cells, Small for gestational age, Absces... | ORPHA:125 | |
Magel2-Related Prader-Willi-Like Syndrome | Abdominal obesity, Increased body weight, Failure to thrive | ORPHA:398069 | |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii | Anemia, Truncal obesity | ORPHA:2637 | |
Pigmented Nodular Adrenocortical Disease, Primary, 1 | Truncal obesity | OMIM:610489 | |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia | Abdominal obesity, Increased body weight | ORPHA:189427 | |
Kallmann Syndrome | Obesity | ORPHA:478 | |
Sheehan Syndrome | Obesity, Normochromic anemia | ORPHA:91355 | |
7Q11.23 Microduplication Syndrome | Obesity | ORPHA:96121 | |
Dysbetalipoproteinemia | Obesity | ORPHA:412 | |
Desbuquois Dysplasia 2 | Truncal obesity | OMIM:615777 | |
Alstrom Syndrome | Truncal obesity | OMIM:203800 | |
Aromatase Deficiency | Obesity, Eunuchoid habitus, Tall stature | ORPHA:91 | |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation | Obesity, Truncal obesity | ORPHA:466950 | |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome | Obesity | ORPHA:369837 | |
Primary Pigmented Nodular Adrenocortical Disease | Abdominal obesity, Increased body weight | ORPHA:189439 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies | Obesity, Hepatosplenomegaly | OMIM:301066 | |
Intellectual Developmental Disorder, Autosomal Dominant 29 | Obesity | OMIM:616078 | |
Prader-Willi Syndrome Due To Translocation | Obesity | ORPHA:177907 | |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness | Obesity | OMIM:250420 | |
Ulnar-Mammary Syndrome | Obesity | ORPHA:3138 | |
Distal Monosomy 12Q | Obesity, Failure to thrive in infancy, Proportionate tall stature | ORPHA:96149 | |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome | Failure to thrive, Obesity | ORPHA:369950 | |
Thyrotoxic Periodic Paralysis | Obesity, Weight loss | ORPHA:79102 | |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis | Thrombocytopenia, Truncal obesity, Splenomegaly | OMIM:301072 | |
Bardet-Biedl Syndrome 20 | Obesity | OMIM:619471 | |
Prader-Willi Syndrome | Abdominal obesity, Failure to thrive | ORPHA:739 | |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii | Truncal obesity | OMIM:210720 | |
Cushing Disease | Abdominal obesity, Lymphopenia, Leukocytosis, Truncal obesity, Increased body weight, Decreased e... | ORPHA:96253 | |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome | Obesity | ORPHA:466943 | |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities | Obesity, Failure to thrive, Decreased body weight, Overweight | OMIM:619475 | |
1P21.3 Microdeletion Syndrome | Obesity | ORPHA:293948 | |
Pseudohypoparathyroidism Type 1C | Obesity | ORPHA:79444 | |
Craniopharyngioma | Obesity | ORPHA:54595 | |
22Q11.2 Deletion Syndrome | Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Obesity, Thrombocytopenia | ORPHA:567 | |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes | Obesity | OMIM:619269 | |
Kabuki Syndrome | Failure to thrive, Obesity | ORPHA:2322 | |
Pseudohypoparathyroidism Type 1A | Obesity | ORPHA:79443 | |
Partial Deletion Of The Short Arm Of Chromosome 7 | Obesity | ORPHA:261911 | |
White-Kernohan Syndrome | Obesity | OMIM:619426 | |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies | Obesity | OMIM:618653 | |
Xq21 Microdeletion Syndrome | Obesity | ORPHA:1435 | |
Orotic Aciduria | Impaired T cell function | OMIM:258900 | |
Myhre Syndrome | Obesity, Small for gestational age | OMIM:139210 | |
Velocardiofacial Syndrome | Impaired T cell function, Recurrent infections | OMIM:192430 | |
Tako-Tsubo Cardiomyopathy | Obesity | ORPHA:66529 | |
Chronic Thromboembolic Pulmonary Hypertension | Myeloproliferative disorder, Obesity | ORPHA:70591 | |
Beckwith-Wiedemann Syndrome | Tall stature, Splenomegaly, Polycythemia, Large for gestational age, Obesity | ORPHA:116 | |
6Q Terminal Deletion Syndrome | Failure to thrive, Obesity | ORPHA:75857 | |
Adnp Syndrome | Truncal obesity | ORPHA:404448 | |
17Q24.2 Microdeletion Syndrome | Failure to thrive in infancy, Truncal obesity | ORPHA:529962 | |
Meningioma | Obesity | ORPHA:2495 | |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome | Obesity | ORPHA:444077 | |
1P36 Deletion Syndrome | Obesity, Failure to thrive, Abnormality of the spleen | ORPHA:1606 | |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies | Abdominal obesity, Leukocytosis | OMIM:619321 | |
Rubinstein-Taybi Syndrome 1 | Failure to thrive, Small for gestational age, Accessory spleen, Truncal obesity, Leukemia | OMIM:180849 | |
Progeroid Short Stature With Pigmented Nevi | Recurrent viral infections, Impaired T cell function | OMIM:176690 | |
Parenteral Nutrition-Associated Cholestasis | Abnormality of cytokine secretion | ORPHA:567983 | |
45,X/46,Xy Mixed Gonadal Dysgenesis | Obesity | ORPHA:1772 | |
Acrodysostosis With Multiple Hormone Resistance | Obesity | ORPHA:280651 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Obesity | ORPHA:293987 | |
Turner Syndrome Due To Structural X Chromosome Anomalies | Obesity, Failure to thrive in infancy | ORPHA:99413 | |
Turner Syndrome | Obesity, Failure to thrive in infancy | ORPHA:881 | |
Mosaic Monosomy X | Obesity, Failure to thrive in infancy | ORPHA:99228 | |
Monosomy X | Obesity, Failure to thrive in infancy | ORPHA:99226 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Abdominal obesity, Lymphopenia, Leukocytosis, Truncal obesity, Increased body weight, Weight loss... | ORPHA:99889 | |
Monosomy 22Q13.3 | Obesity | ORPHA:48652 | |
Williams Syndrome | Obesity, Failure to thrive in infancy | ORPHA:904 | |
Digeorge Syndrome | Splenomegaly, Hypoplasia of the thymus, Obesity, Anemia, Thrombocytopenia | OMIM:188400 | |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion | Failure to thrive, Obesity | ORPHA:353281 | |
Ulnar-Mammary Syndrome | Obesity | OMIM:181450 | |
Chromosome 1P36 Deletion Syndrome, Distal | Obesity | OMIM:607872 | |
Witteveen-Kolk Syndrome | Obesity, Small for gestational age | OMIM:613406 | |
Sarcoidosis, Susceptibility To, 1 | Increased circulating antibody level, Abnormality of T cell physiology | OMIM:181000 | |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency | Failure to thrive, Obesity | ORPHA:353284 | |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations | Failure to thrive, Obesity | ORPHA:353277 | |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 | Obesity | OMIM:309580 | |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome | Abnormality of T cell physiology | ORPHA:2237 | |
Carpenter Syndrome 2 | Obesity | OMIM:614976 | |
Williams-Beuren Syndrome | Obesity, Failure to thrive in infancy | OMIM:194050 | |
Cornelia De Lange Syndrome | Failure to thrive, Truncal obesity | ORPHA:199 | |
Carney Complex | Abdominal obesity, Increased body weight, Tall stature | ORPHA:1359 | |
Pallister-Killian Syndrome | Obesity | OMIM:601803 | |
Primrose Syndrome | Truncal obesity | OMIM:259050 | |
Alström Syndrome | Obesity, Hepatosplenomegaly, Truncal obesity, Splenomegaly | ORPHA:64 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ptpn13tm402802(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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