DiseaseID 21854

肥胖症

disease

Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.

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Disease: 1Experiment: 6Symptom: 8Target: 12Links: 26

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Record Fields

Scalar fields from the final disease record.

Disease Id: 21854
Core Entity Id: 80618
Source Entity Count: 1
Preferred Name: Obesity
Name Cn: 肥胖症
Name Pinyin: Fei Pang Zheng
Name En: Obesity
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Disease or Syndrome
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic DiseasesNutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms
Do Class: disease of metabolism
Hpo Class: Growth abnormality
Mesh Class Name: Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
Hpo Class Name: Growth abnormality
Do Class Name: disease of metabolism
Disease Definition: Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Obesity

Role

preferred

Name

Obesity Due To Melanocortin 4 Receptor Deficiency

Role

preferred

Name

Obesity Due To Sim1 Deficiency

Role

preferred

Name

Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency

Role

preferred

Name

Adiposity

Role

preferred

Name

Calorie Overload

Role

preferred

Name

Obesity Due To Congenital Leptin Deficiency

Role

preferred

Name

Obesity Due To Leptin Receptor Gene Deficiency

Role

preferred

Name

Obesity Due To Pro-Opiomelanocortin Deficiency

Role

preferred

Name

Obesity Due To Prohormone Convertase I Deficiency

Role

preferred

Name

Simple Obesity

Role

preferred

Name

Slender Build

Role

preferred

Name

Thinness

Role

preferred

Name

Underweight

Role

preferred

Name

Weight Decreased

Role

preferred

Name

Weight Less Than 3Rd Percentile

Role

preferred

Name

Asthenic Habitus

Role

alias

Name

Decreased Body Weight

Role

alias

Name

Decreased Weight

Role

alias

Name

Having Too Much Body Fat

Role

alias

Name

LEANNESS

Role

alias

Name

Low Body Weight

Role

alias

Name

Low Weight

Role

alias

Name

MC4R Deficiency

Role

alias

Name

Obesity Due To Excess Calories

Role

alias

Name

Obesity, Unspecified

Role

alias

Name

Thin Body Habitus

Role

alias

Name

Thin Build

Role

alias

Name

Weight Loss

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0001533HP:0001824

Herb

HBDIS002148HBDIS002929HBDIS009506HBDIS012891HBDIS014586HBDIS016138HBDIS016727HBDIS025890HBDIS028261HBDIS028660

Me Sh

D015431D050154

Umls

C1857854

Icd10

E66E66.0E66.8

Sym Map

SMDE00623SMDE00921SMDE02572SMDE02874SMDE03000SMDE03022SMDE03575SMDE04401

Do Class

DOID:0014667

Dis Ge Net

C0028754C0039870C0041667C0451819C1262477C1279702C1563743C1844806C1850573C4273958

Orphanet

17949432924936987366628715267152871529

Umls Sty

T032T033T047

Hpo Class

HP:0001507

Me Sh Class

C16C18C23

Tcmbank Disease

18661197302628701294353496416642887348

Itcmdb Generated

ITX-DISEASE-1E4DCAD4133DITX-DISEASE-3074DDDA76A6ITX-DISEASE-59FBC5A97309ITX-DISEASE-9F278391DA3CITX-DISEASE-E650FD15392D

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v1,v2

Suppress

Do Class Name

disease of metabolism

Disease Type

diseasephenotype

Hpo Class Name

Growth abnormality

Do Disease Class

disease of metabolism

Hpo Disease Class

Growth abnormality

Umls Disease Type

Disease or SyndromeFindingOrganism Attribute

Disease Definition

Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone minerNCI2016_NCI-GLOSS_1602D:A condition marked by an abnormally high, unhealthy amount of body fat.|NCI2016_CTCAE_1602D:A disorder characterized by having a high amount of body fat.|NCI2016_02D:Having a high amount of body fat (body mass index [BMI] of 30 or more).|NANDA-I_2015-2017:A condition in which an individual accumulates abnormal or excessive fat for age and gender that exceeds overweight.|MSH2017_2016_08_12:A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).|MEDLINEPLUS_20151021:Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases|HPO2016_07_04:Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese. [HPO:probinson, MeSH:D009765]|CSP2006:excessively high accumulation of body fat or adipose tissue in relation to lean body mass; the amount of body fat (or adiposity) includes concern for both the distribution of fat throughout the body and the size of the adipose tissue deposits; individuals are usually at high clinical risk because of excess amount of body fat (BMI greater than 30).Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic DiseasesNutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms

Dis Ge Net Disease Type

diseasephenotype

Disease Class Name Me Sh

Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases

Umls Semantic Type Name

Disease or SyndromeFindingOrganism Attribute