DiseaseID 7243
早老症
disease
Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caus
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Disease: 1Experiment: 1Symptom: 12Target: 23Links: 37
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7243
- Core Entity Id
- 64010
- Source Entity Count
- 1
- Preferred Name
- Progeria
- Name Cn
- 早老症
- Name Pinyin
- Zao Lao Zheng
- Name En
- Progeria
- 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 DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caus
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Progeria
Role
preferred
Name
Atypical Werner Syndrome
Role
preferred
Name
Donohue Syndrome
Role
preferred
Name
Hutchinson-Gilford Progeria Syndrome
Role
preferred
Name
Insulin Receptor, Defect In
Role
preferred
Name
Leprechaunism
Role
preferred
Name
Progeria Syndrome, Childhood-Onset
Role
preferred
Name
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Role
preferred
Name
Insulin-Resistance Syndrome Type A
Role
preferred
Name
Pineal Gland Dysfunction
Role
preferred
Name
Rabson-Mendenhall Syndrome
Role
preferred
Name
Werner Syndrome
Role
preferred
Name
Atypical Progeroid Syndrome
Role
alias
Name
HGPS
Role
alias
Name
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002483HBDIS003145HBDIS005826HBDIS006611HBDIS006643HBDIS006646HBDIS019847HBDIS025926
Me Sh
D011371D014898D056731
Omim
176670246200262190277700
Umls
C0033300C0043119C0265344C0271689C0271695C0342278C0342336C0432217C2750285
Icd10
E13E34.8
Med Dra
1003679410049429
Sym Map
SMDE00167SMDE00501SMDE02092SMDE02165SMDE02692SMDE03098SMDE03188SMDE03959SMDE09953SMDE12465SMDE12466
Do Class
DOID:630
Dis Ge Net
C0033300C0043119C0265344C0271531C0271689C0271695C2750285C4275075
Orphanet
1667229750874076979474902
Umls Sty
T047
Me Sh Class
C05C16C18C19C23
Etcm Disease
Donohue SyndromeEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusHutchinson-Gilford Progeria Syndrome
Tcmbank Disease
15171162482493027202273682755429200538
Itcmdb Generated
ITX-DISEASE-6856E907FE26ITX-DISEASE-BA603B413C95ITX-DISEASE-C5F549B47AABITX-DISEASE-D9CA7FE46053ITX-DISEASE-E543900FA664
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Donohue Syndrome Details pageDisease Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus Details pageDisease Hutchinson-Gilford Progeria Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Donohue Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Skin diseases
Disease Name
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Name
Hutchinson-Gilford Progeria Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Skin diseases;Smell/Taste diseases
Disease Definition
Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS causHutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facialJABL99:Infancy-onset diabetes mellitus with multiple diaphyseal dysplasia, short-trunk dwarfism, bone demineralization, spontaneous fractures, tooth discoloration, dry scaly skin, hip abduction, arthralgia, hepatomegaly, and renal failure. Mental deficiency occurs in some cases.Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-reNCI2016_02D:A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.|MSH2017_2016_08_12:An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.|CHV2011_02:a disease that produces rapid aging, beginning in childhood|CHV2011_02:a disease that produces rapid aging, beginning in childhood|CHV2011_02:a disease that produces rapid aging, beginning in childhoodRabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistWerner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short statu
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms
Umls Semantic Type Name
Disease or Syndrome