DiseaseID 26369
短肋胸廓发育不良6型伴或不伴多指(趾)
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
NCI2016_02D:A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Oth
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26369
- Core Entity Id
- 118937
- Source Entity Count
- 1
- Preferred Name
- Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
- Name Cn
- 短肋胸廓发育不良6型伴或不伴多指(趾)
- Name Pinyin
- Duan Le Xiong Kuo Fa Yu Bu Liang 6 Xing Ban Huo Bu Ban Duo Zhi ( Zhi )
- Name En
- Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
- 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 group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0024507
Sym Map
SMDE03140
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.