01
CEP120
No data
Diseases
Short Rib-Polydactyly Syndrome
short rib-polydactyly syndrome
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Short Rib-Polydactyly Syndrome
- Standard Disease Name
- short rib-polydactyly syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D012779
- OMIM ID
- No data
- UMLS ID
- C0036996
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare congenital lethal syndrome characterized by the presence of extra fingers and toes and short ribs, the latter resulting in inability of the lungs to expand. The newborn dies shortly after birth.|MSH2017_2016_08_12:A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
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