01
DDX11
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- Sc Phocomelia Syndrome
- Standard Disease Name
- sc phocomelia syndrome
- MeSH Tree
- No data
- ICD-10
- Q73.8
Identifiers
- DO ID
- No data
- MeSH ID
- C535687
- OMIM ID
- 268300|269000|269000
- UMLS ID
- C0392475
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. Cardiac, renal and genital abnormalities may also be seen. Clinical course is variable. In the most severe cases, this syndrome is incompatible with life.|JABL99:Symmetrical phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym SC-pseudothalidomide syndrome), flexion contractures of the joints, facial anomalies, micrognathia, scanty blond hair, cloudy corneae, delayed growth, and occasional mental retardation. SC phocomelia and Roberts syndrome are considered by some as the same entity termed Roberts-SC phocomelia syndrome. The syndrome was first observed in a family with surname beginning with S and another with surname beginning with C.|JABL99:A syndrome of symmetric phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym Roberts pseudothalidomide syndrome), craniofacial abnormalities, growth retardation, and mental deficiency with various degrees of severity. Roberts and SC phocomelia syndromes are considered by some the same entity termed Roberts-SC phocomelia syndrome.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease7 Targets