DiseaseID 26741
智力障碍-躯干性肥胖-视网膜营养不良-小阴茎综合征
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
SNOMEDCT_US_2016_09_01:Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in
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Disease: 1Symptom: 4Target: 17Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26741
- Core Entity Id
- 119309
- Source Entity Count
- 1
- Preferred Name
- Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
- Name Cn
- 智力障碍-躯干性肥胖-视网膜营养不良-小阴茎综合征
- Name Pinyin
- Zhi Li Zhang Ai - Qu Gan Xing Fei Pang - Shi Wang Mo Ying Yang Bu Liang - Xiao Yin Jing Zong He Zheng
- Name En
- Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1857802
Sym Map
SMDE04797
Etcm Disease
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
Itcmdb Generated
ITX-DISEASE-A95DF9381CA6
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome Details page
Basic Information
Disease Name
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.