DiseaseID 15656
侏儒症
disease
Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellect
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Disease: 1Symptom: 12Target: 24Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15656
- Core Entity Id
- 73620
- Source Entity Count
- 1
- Preferred Name
- Dwarfism
- Name Cn
- 侏儒症
- Name Pinyin
- Zhu Ru Zheng
- Name En
- Dwarfism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Nervous System Diseases; Musculoskeletal DiseasesOtorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- genetic disease
- Hpo Class
- Growth abnormality
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesMusculoskeletal Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
- Hpo Class Name
- Growth abnormality
- Do Class Name
- genetic disease
- Disease Definition
- Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellect
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dwarfism
Role
preferred
Name
Laron Syndrome
Role
preferred
Name
Short Stature Due To Partial Ghr Deficiency
Role
preferred
Name
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Role
preferred
Name
INCREASED RESPONSIVENESS TO GROWTH HORMONE
Role
preferred
Name
Insulin-Like Growth Factor I Deficiency
Role
preferred
Name
Short Stature Due To Ghsr Deficiency
Role
preferred
Name
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Role
preferred
Name
Short Stature, Idiopathic, Autosomal
Role
preferred
Name
GH Receptor Deficiency
Role
alias
Name
GROWTH HORMONE INSENSITIVITY SYNDROME
Role
alias
Name
Growth Hormone Deficiency, Isolated Partial
Role
alias
Name
Growth Hormone Insensitivity, Partial
Role
alias
Name
Growth Hormone Receptor Deficiency
Role
alias
Name
Laron-type
Role
alias
Name
PITUITARY DWARFISM II
Role
alias
Name
Primary GH Insensitivity
Role
alias
Name
Primary GH Resistance
Role
alias
Name
Primary Growth Hormone Insensitivity
Role
alias
Name
Proportionate Dwarfism
Role
alias
Name
Severe Short Stature
Role
alias
Name
Short Stature Due To Growth Hormone Resistance
Role
alias
Name
Short Stature Due To Partial Growth Hormone Receptor Deficiency
Role
alias
Name
Short Stature, Extreme
Role
alias
Name
Short Stature, Severe
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003510
Herb
HBDIS000840HBDIS006617HBDIS015576HBDIS017568HBDIS022786
Me Sh
D004392D046150
Omim
262500604271608747615925
Umls
C0013336C0271568C1837475C1858656
Icd10
E34.3
Sym Map
SMDE00053SMDE00419SMDE01205SMDE03596SMDE03623SMDE03942SMDE08070SMDE13129
Do Class
DOID:630
Dis Ge Net
C0013336C0271568C1837475C1858656C3888131
Orphanet
1409413148023148116337327273273
Umls Sty
T019T033T047
Hpo Class
HP:0001507
Me Sh Class
C05C09C10C16C19C23
Etcm Disease
Laron Syndrome
Tcmbank Disease
104711672153391865425477
Itcmdb Generated
ITX-DISEASE-EED38A1810F9ITX-DISEASE-EF0CA2050C76
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Laron Syndrome Details page
Do Class Name
genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Growth abnormality
Do Disease Class
genetic disease
Hpo Disease Class
Growth abnormality
Umls Disease Type
Congenital AbnormalityDisease or SyndromeFinding
Basic Information
Disease Name
Laron Syndrome
Global Category
Cancer diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases
Disease Definition
Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectLaron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fNCI2016_02D:Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition.|MSH2017_2016_08_12:A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.|MEDLINEPLUS_20151021:<p>A dwarf is a person of short stature - under 4' 10" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature.</p> <p>Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.</p>|HPO2016_07_04:A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [HPO:probinson]|CSP2006:condition of being undersized as a result of premature arrest of skeletal growth.Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that rShort stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and ins
Me Sh Disease Class
Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Nervous System Diseases; Musculoskeletal DiseasesOtorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesMusculoskeletal Diseases; Nervous System Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeFinding