DiseaseID 26487
X连锁综合征性智力低下 Snyder-Robinson型
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
JABL99:This syndrome was originally reported as a nonspecific form of MXLR. The phenotype was later redefined to include large head, asthenic body build with diminished muscle bulk, marfanoid habitus (tall stature with l
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Disease: 1Symptom: 4Target: 16Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26487
- Core Entity Id
- 119055
- Source Entity Count
- 1
- Preferred Name
- Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
- Name Cn
- X连锁综合征性智力低下 Snyder-Robinson型
- Name Pinyin
- X Lian Suo Zong He Zheng Xing Zhi Li Di Xia snyder-robinson Xing
- Name En
- Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
- 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
- JABL99:This syndrome was originally reported as a nonspecific form of MXLR. The phenotype was later redefined to include large head, asthenic body build with diminished muscle bulk, marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, muscle hypotonia, and arachnodactyly), nasal speech, characteristic facies, scoliosis, thin fingers, and other anomalies.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796160
Sym Map
SMDE03713
Etcm Disease
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
Itcmdb Generated
ITX-DISEASE-C2C8033542C2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type Details page
Basic Information
Disease Name
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Mental diseases;Neuronal diseases
Disease Definition
JABL99:This syndrome was originally reported as a nonspecific form of MXLR. The phenotype was later redefined to include large head, asthenic body build with diminished muscle bulk, marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, muscle hypotonia, and arachnodactyly), nasal speech, characteristic facies, scoliosis, thin fingers, and other anomalies.