DiseaseID 26358
并指(趾)多指(趾)畸形1型
Synpolydactyly 1
SNOMEDCT_US_2016_09_01:A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Addition
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Disease: 1Target: 11Links: 11
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26358
- Core Entity Id
- 118926
- Source Entity Count
- 1
- Preferred Name
- Synpolydactyly 1
- Name Cn
- 并指(趾)多指(趾)畸形1型
- Name Pinyin
- Bing Zhi ( Zhi ) Duo Zhi ( Zhi ) Ji Xing 1 Xing
- Name En
- Synpolydactyly 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
- SNOMEDCT_US_2016_09_01:A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner.|NCI2016_02D:A rare genetic disorder characterized by malformations in the hands and feet. The abnormalities include increased number of fingers and toes and fusion of digits into one large digit.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Synpolydactyly 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C2699746
Sym Map
SMDE03103
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner.|NCI2016_02D:A rare genetic disorder characterized by malformations in the hands and feet. The abnormalities include increased number of fingers and toes and fusion of digits into one large digit.