DiseaseID 26434
X连锁精神发育迟滞伴或不伴癫痫发作，ARX相关
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
JABL99:Nonsyndromic mental retardation.|JABL99:Nonsyndromic mental retardation with macrocephaly as the only constant features.|JABL99:Nonsyndromic mental retardation with inconsistent minor abnormalities which include d
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Disease: 1Symptom: 2Target: 16Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26434
- Core Entity Id
- 119002
- Source Entity Count
- 1
- Preferred Name
- Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
- Name Cn
- X连锁精神发育迟滞伴或不伴癫痫发作，ARX相关
- Name Pinyin
- X Lian Suo Jing Shen Fa Yu Chi Zhi Ban Huo Bu Ban Dian Xian Fa Zuo ，arx Xiang Guan
- Name En
- Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
- 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:Nonsyndromic mental retardation.|JABL99:Nonsyndromic mental retardation with macrocephaly as the only constant features.|JABL99:Nonsyndromic mental retardation with inconsistent minor abnormalities which include delayed speech, large head, brachycephaly, full lips, short and broad fingers, diabetes mellitus, and long ears.|JABL99:Nonsyndromic mental retardation with delayed motor and speech development.|JABL99:A nonsyndromic form of mental retardation with inconsistent abnormalities, including delayed motor development and relative microcephaly.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796244
Sym Map
SMDE03434
Etcm Disease
Mental Retardation, X-Linked, with or Without Seizures, Arx-Related
Itcmdb Generated
ITX-DISEASE-D984AA1C8BE0
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mental Retardation, X-Linked, with or Without Seizures, Arx-Related Details page
Basic Information
Disease Name
Mental Retardation, X-Linked, with or Without Seizures, Arx-Related
Global Category
Genetic diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Definition
JABL99:Nonsyndromic mental retardation.|JABL99:Nonsyndromic mental retardation with macrocephaly as the only constant features.|JABL99:Nonsyndromic mental retardation with inconsistent minor abnormalities which include delayed speech, large head, brachycephaly, full lips, short and broad fingers, diabetes mellitus, and long ears.|JABL99:Nonsyndromic mental retardation with delayed motor and speech development.|JABL99:A nonsyndromic form of mental retardation with inconsistent abnormalities, including delayed motor development and relative microcephaly.