DiseaseID 26154
Shprintzen-Goldberg颅缝早闭综合征
Shprintzen-Goldberg Craniosynostosis Syndrome
NCI2016_02D:A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head,
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Disease: 1Symptom: 3Target: 4Links: 7
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26154
- Core Entity Id
- 118722
- Source Entity Count
- 1
- Preferred Name
- Shprintzen-Goldberg Craniosynostosis Syndrome
- Name Cn
- Shprintzen-Goldberg颅缝早闭综合征
- Name Pinyin
- Shprintzen-goldberg Lu Feng Zao Bi Zong He Zheng
- Name En
- Shprintzen-Goldberg Craniosynostosis 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
- NCI2016_02D:A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome.|JABL99:Premature closure of sutures of the skull associated with marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia), hypotonia, abdominal hernia, developmental delay, and other anomalies. The syndrome was first observed by Shprintzen and Goldberg in the Montefiore Hospital in New York, hence the name Montefiore syndrome.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Shprintzen-Goldberg Craniosynostosis Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1321551
Sym Map
SMDE02174
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome.|JABL99:Premature closure of sutures of the skull associated with marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia), hypotonia, abdominal hernia, developmental delay, and other anomalies. The syndrome was first observed by Shprintzen and Goldberg in the Montefiore Hospital in New York, hence the name Montefiore syndrome.