DiseaseID 30328
皮特综合征
Pitt Syndrome
MSH2017_2016_08_12:A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16.|JABL99:Short stature, characteristic facies, microcepha
Relationship Network
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Disease: 1Symptom: 2Target: 12Links: 14
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 30328
- Core Entity Id
- 122896
- Source Entity Count
- 1
- Preferred Name
- Pitt Syndrome
- Name Cn
- 皮特综合征
- Name Pinyin
- Pi Te Zong He Zheng
- Name En
- Pitt 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
- MSH2017_2016_08_12:A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16.|JABL99:Short stature, characteristic facies, microcephaly, telecanthus, prominent eyes, abnormal slanting of the palpebral fissures, hypoplastic maxilla, short philtrum, large mouth, and severe mental retardation.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pitt Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE12180
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
MSH2017_2016_08_12:A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16.|JABL99:Short stature, characteristic facies, microcephaly, telecanthus, prominent eyes, abnormal slanting of the palpebral fissures, hypoplastic maxilla, short philtrum, large mouth, and severe mental retardation.