DiseaseID 25948
Treacher Collins综合征1型
Treacher Collins Syndrome 1
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25948
- Core Entity Id
- 118516
- Source Entity Count
- 1
- Preferred Name
- Treacher Collins Syndrome 1
- Name Cn
- Treacher Collins综合征1型
- Name Pinyin
- Treacher collins Zong He Zheng 1 Xing
- Name En
- Treacher Collins Syndrome 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
- NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.|MSH2017_2016_08_12:A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)|JABL99:A syndrome with variable expressivity, largely involving structures derived from the first pharyngeal arch, groove or pouch. It is characterized mainly by fishlike facies with receding chin, downward sloping palpebral fissures, colobomas of the eyelids, macrostomia, dysplastic ears, and other anomalies. Ear malformation are usually associated with hearing loss. Orofacial defects are symmetrical and differ from those in oculo-auriculovertebral dysplasia which generally affect one side of the body. Mental retardation occurs in some cases. The name Treacher Collins is sometimes erroneously hyphenated.|HPO2016_07_04:A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. [HPO:probinson]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Treacher Collins Syndrome 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0242387
Sym Map
SMDE01200
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.|MSH2017_2016_08_12:A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)|JABL99:A syndrome with variable expressivity, largely involving structures derived from the first pharyngeal arch, groove or pouch. It is characterized mainly by fishlike facies with receding chin, downward sloping palpebral fissures, colobomas of the eyelids, macrostomia, dysplastic ears, and other anomalies. Ear malformation are usually associated with hearing loss. Orofacial defects are symmetrical and differ from those in oculo-auriculovertebral dysplasia which generally affect one side of the body. Mental retardation occurs in some cases. The name Treacher Collins is sometimes erroneously hyphenated.|HPO2016_07_04:A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. [HPO:probinson]