DiseaseID 26281
X连锁智力低下-肌张力低下面容综合征1型
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
JABL99:Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia, and abnormal palpebral fissures, upper lip, and
Relationship Network
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Disease: 1Symptom: 10Target: 17Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26281
- Core Entity Id
- 118849
- Source Entity Count
- 1
- Preferred Name
- Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
- Name Cn
- X连锁智力低下-肌张力低下面容综合征1型
- Name Pinyin
- X Lian Suo Zhi Li Di Xia - Ji Zhang Li Di Xia Mian Rong Zong He Zheng 1 Xing
- Name En
- Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
- 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:Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia, and abnormal palpebral fissures, upper lip, and nose.|JABL99:A rare syndrome of mental retardation, growth failure, characteristic facies, sensorineural deafness, microgenitalism, and early death.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796003
Sym Map
SMDE02796
Etcm Disease
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Itcmdb Generated
ITX-DISEASE-4238030BA94B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Details page
Basic Information
Disease Name
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
JABL99:Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia, and abnormal palpebral fissures, upper lip, and nose.|JABL99:A rare syndrome of mental retardation, growth failure, characteristic facies, sensorineural deafness, microgenitalism, and early death.